2-179580424-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179580424
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179580424
    reference: chr 2
allele count: 2
allele frequency: 2.400268830108972e-5
allele num: 83324
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21985A>C
  hgvsp: ENSP00000343764.6:p.Ile7329Leu
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+22385A>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25717A>C
  hgvsp: ENSP00000467141.1:p.Ile8573Leu
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24766A>C
  hgvsp: ENSP00000465570.1:p.Ile8256Leu
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+22385A>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+22385A>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-45243T>G
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3692
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26510
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile8573Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

2-179580433-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179580433
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179580433
    reference: chr 2
allele count: 3
allele frequency: 3.888024883359253e-5
allele num: 77160
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25708G>A
  hgvsp: ENSP00000467141.1:p.Glu8570Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-45234C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+22376G>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21976G>A
  hgvsp: ENSP00000343764.6:p.Glu7326Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+22376G>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24757G>A
  hgvsp: ENSP00000465570.1:p.Glu8253Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+22376G>A
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14931
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19566
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1924
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2607
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28554
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1839
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2532
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu8570Lys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

2-179580434-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179580434
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179580434
    reference: chr 2
allele count: 4115
allele frequency: 5.43176958209034e-2
allele num: 75758
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+22375T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+22375T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25707T>C
  hgvsp: ENST00000589042.1:c.25707T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24756T>C
  hgvsp: ENST00000591111.1:c.24756T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-45233A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21975T>C
  hgvsp: ENST00000342992.6:c.21975T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+22375T>C
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 6156
  bin: 2.75e1
  variant carriers: 298
genotype depth: GenotypeDepth
  all individuals: 20019
  bin: 7.5e0
  variant carriers: 357
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 3.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 3518
  bin: 1.75e1
  variant carriers: 1126
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 3.25e1
  variant carriers: 108
genotype depth: GenotypeDepth
  all individuals: 9815
  bin: 2.25e1
  variant carriers: 714
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.75e1
  variant carriers: 204
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 14960
  bin: 1.25e1
  variant carriers: 1057
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 2.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 4.75e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 8.25e1
  variant carriers: 58
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 3.75e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 7.25e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 5.25e1
  variant carriers: 52
genotype quality: GenotypeQuality
  all individuals: 2348
  bin: 2.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 8.75e1
  variant carriers: 77
genotype quality: GenotypeQuality
  all individuals: 1685
  bin: 6.75e1
  variant carriers: 41
hgvs: p.Tyr8569Tyr
num of homozygotes: 225
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

2-179580437-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179580437
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179580437
    reference: chr 2
allele count: 45
allele frequency: 6.271427376870976e-4
allele num: 71754
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21972G>A
  hgvsp: ENST00000342992.6:c.21972G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+22372G>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+22372G>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25704G>A
  hgvsp: ENST00000589042.1:c.25704G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24753G>A
  hgvsp: ENST00000591111.1:c.24753G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-45230C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+22372G>A
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21829
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6033
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15077
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9258
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2518
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 9.75e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 1738
  bin: 6.75e1
  variant carriers: 1
hgvs: p.Arg8568Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

2-179580442-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179580442
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179580442
    reference: chr 2
allele count: 2
allele frequency: 2.914347331915018e-5
allele num: 68626
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+22367A>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+22367A>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25699A>G
  hgvsp: ENSP00000467141.1:p.Thr8567Ala
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21967A>G
  hgvsp: ENSP00000343764.6:p.Thr7323Ala
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24748A>G
  hgvsp: ENSP00000465570.1:p.Thr8250Ala
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-45225T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+22367A>G
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22896
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15062
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr8567Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP

2-179580442-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179580442
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179580442
    reference: chr 2
allele count: 1
allele frequency: 1.457173665957509e-5
allele num: 68626
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25699A>C
  hgvsp: ENSP00000467141.1:p.Thr8567Pro
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-45225T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21967A>C
  hgvsp: ENSP00000343764.6:p.Thr7323Pro
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+22367A>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24748A>C
  hgvsp: ENSP00000465570.1:p.Thr8250Pro
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+22367A>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+22367A>C
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15062
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22896
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2983
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32060
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr8567Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

2-179580450-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179580450
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179580450
    reference: chr 2
allele count: 2
allele frequency: 3.151293606025273e-5
allele num: 63466
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21959A>G
  hgvsp: ENSP00000343764.6:p.Asp7320Gly
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+22359A>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25691A>G
  hgvsp: ENSP00000467141.1:p.Asp8564Gly
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+22359A>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24740A>G
  hgvsp: ENSP00000465570.1:p.Asp8247Gly
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-45217T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+22359A>G
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14604
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2357
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1406
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32324
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4155
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp8564Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-179580452-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179580452
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179580452
    reference: chr 2
allele count: 1
allele frequency: 1.61540449728612e-5
allele num: 61904
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25689G>A
  hgvsp: ENST00000589042.1:c.25689G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-45215C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+22357G>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+22357G>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21957G>A
  hgvsp: ENST00000342992.6:c.21957G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24738G>A
  hgvsp: ENST00000591111.1:c.24738G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+22357G>A
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24547
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4240
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7388
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14473
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1689
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10636
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1728
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln8563Gln
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD

2-179580465-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179580465
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179580465
    reference: chr 2
allele count: 1
allele frequency: 1.861781352397974e-5
allele num: 53712
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+22344G>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+22344G>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+22344G>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25676G>A
  hgvsp: ENSP00000467141.1:p.Arg8559Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24725G>A
  hgvsp: ENSP00000465570.1:p.Arg8242Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21944G>A
  hgvsp: ENSP00000343764.6:p.Arg7315Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-45202C>T
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12695
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26016
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6789
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1483
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8837
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7095
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2812
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg8559Lys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

2-179580478-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179580478
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179580478
    reference: chr 2
allele count: 7
allele frequency: 1.475361463558572e-4
allele num: 47446
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24712C>T
  hgvsp: ENST00000591111.1:c.24712C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25663C>T
  hgvsp: ENST00000589042.1:c.25663C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+22331C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-45189G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+22331C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21931C>T
  hgvsp: ENST00000342992.6:c.21931C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+22331C>T
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5252
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11267
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26556
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9381
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1740
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3009
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9577
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7587
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu8555Leu
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-179580479-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179580479
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179580479
    reference: chr 2
allele count: 7
allele frequency: 1.482862348006609e-4
allele num: 47206
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21930G>T
  hgvsp: ENSP00000343764.6:p.Lys7310Asn
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25662G>T
  hgvsp: ENSP00000467141.1:p.Lys8554Asn
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-45188C>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+22330G>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+22330G>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+22330G>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24711G>T
  hgvsp: ENSP00000465570.1:p.Lys8237Asn
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9383
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11226
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5238
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2685
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1702
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9629
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys8554Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD

2-179580481-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179580481
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179580481
    reference: chr 2
allele count: 15
allele frequency: 3.217917363882096e-4
allele num: 46614
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+22328A>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24709A>G
  hgvsp: ENSP00000465570.1:p.Lys8237Glu
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+22328A>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21928A>G
  hgvsp: ENSP00000343764.6:p.Lys7310Glu
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25660A>G
  hgvsp: ENSP00000467141.1:p.Lys8554Glu
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+22328A>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-45186T>C
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11042
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26664
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5125
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9800
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7525
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1732
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29832
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10016
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1900
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys8554Glu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

2-179580495-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179580495
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179580495
    reference: chr 2
allele count: 1
allele frequency: 2.456519603026432e-5
allele num: 40708
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21914C>A
  hgvsp: ENSP00000343764.6:p.Pro7305His
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+22314C>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-45172G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+22314C>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25646C>A
  hgvsp: ENSP00000467141.1:p.Pro8549His
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+22314C>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24695C>A
  hgvsp: ENSP00000465570.1:p.Pro8232His
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12954
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10029
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2424
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28384
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13206
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro8549His
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

2-179580496-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179580496
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179580496
    reference: chr 2
allele count: 2
allele frequency: 4.99325910021471e-5
allele num: 40054
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24694C>T
  hgvsp: ENSP00000465570.1:p.Pro8232Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+22313C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25645C>T
  hgvsp: ENSP00000467141.1:p.Pro8549Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-45171G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+22313C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21913C>T
  hgvsp: ENSP00000343764.6:p.Pro7305Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+22313C>T
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13519
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26025
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9942
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3781
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2853
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1803
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1980
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13745
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro8549Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD

2-179580516-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179580516
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179580516
    reference: chr 2
allele count: 1
allele frequency: 2.918174390101553e-5
allele num: 34268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21908-15C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-45151G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+22293C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24689-15C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+22293C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+22293C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25640-15C>T
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17651
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24404
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2503
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24576
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2680
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-179580516-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179580516
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179580516
    reference: chr 2
allele count: 1
allele frequency: 2.918174390101553e-5
allele num: 34268
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24689-15C>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21908-15C>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25640-15C>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+22293C>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+22293C>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-45151G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+22293C>G
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24404
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17651
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9186
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2503
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24576
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1464
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17963
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2680
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

2-179580525-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179580525
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179580525
    reference: chr 2
allele count: 3275
allele frequency: 1.006329891838741e-1
allele num: 32544
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25640-24G>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24689-24G>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-45142C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+22284G>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+22284G>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21908-24G>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+22284G>A
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 3.75e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 23074
  bin: 7.5e0
  variant carriers: 2364
genotype depth: GenotypeDepth
  all individuals: 9226
  bin: 1.25e1
  variant carriers: 1466
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 18999
  bin: 2.5e0
  variant carriers: 335
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 2.25e1
  variant carriers: 357
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 4.25e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 2.75e1
  variant carriers: 145
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 1.75e1
  variant carriers: 669
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 3.25e1
  variant carriers: 77
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.25e1
  variant carriers: 83
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 3.25e1
  variant carriers: 159
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 7.25e1
  variant carriers: 216
genotype quality: GenotypeQuality
  all individuals: 2762
  bin: 2.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 19576
  bin: 2.25e1
  variant carriers: 174
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.75e1
  variant carriers: 138
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.75e1
  variant carriers: 54
genotype quality: GenotypeQuality
  all individuals: 2043
  bin: 1.75e1
  variant carriers: 170
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 9.25e1
  variant carriers: 221
num of homozygotes: 218
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

2-179580529-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179580529
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179580529
    reference: chr 2
allele count: 2
allele frequency: 6.847439057792385e-5
allele num: 29208
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-45138G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24689-28C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21908-28C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25640-28C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+22280C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+22280C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+22280C>T
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8499
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22122
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 21789
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2694
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1626
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ

2-179580532-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179580532
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179580532
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 28634
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21908-31T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+22277T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24689-31T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+22277T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25640-31T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-45135A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+22277T>C
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22134
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22016
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22902
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4182
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1210
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

2-179580533-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179580533
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179580533
    reference: chr 2
allele count: 1
allele frequency: 3.538570417551309e-5
allele num: 28260
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+22276C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25640-32C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+22276C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-45134G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24689-32C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+22276C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21908-32C>T
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22249
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21966
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18507
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23086
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4406
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 8.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

2-179580550-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179580550
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179580550
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 22806
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-45117T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25640-49A>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21908-49A>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+22259A>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+22259A>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+22259A>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24689-49A>G
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22427
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23247
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5966
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7168
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8919
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4089
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7335
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

2-179580551-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179580551
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179580551
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 21668
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24689-50T>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-45116A>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+22258T>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21908-50T>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+22258T>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+22258T>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25640-50T>A
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 22383
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23190
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6017
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9313
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20619
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7381
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1514
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: A
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

2-179581774-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179581774
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179581774
    reference: chr 2
allele count: 31
allele frequency: 3.036714862270287e-4
allele num: 102084
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+21035C>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+21035C>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21907+48C>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+21035C>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-43893G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24688+48C>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25639+48C>G
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5099
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7200
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13801
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 11445
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14558
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2855
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8278
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3422
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4489
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5280
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5512
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

2-179581775-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179581775
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179581775
    reference: chr 2
allele count: 2
allele frequency: 1.951866960747955e-5
allele num: 102466
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+21034T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+21034T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+21034T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21907+47T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-43892A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25639+47T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24688+47T>C
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13784
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13625
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9267
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6009
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3368
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3885
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1751
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5509
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5500
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

2-179581796-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179581796
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179581796
    reference: chr 2
allele count: 1
allele frequency: 9.4553706505295e-6
allele num: 105760
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25639+26A>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24688+26A>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-43871T>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+21013A>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+21013A>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+21013A>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21907+26A>T
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7436
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6836
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3948
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6579
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP

2-179581797-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179581797
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179581797
    reference: chr 2
allele count: 1
allele frequency: 9.430937246543562e-6
allele num: 106034
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+21012G>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+21012G>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+21012G>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21907+25G>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25639+25G>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-43870C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24688+25G>C
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6697
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7576
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4888
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3095
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3951
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2190
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum

2-179581797-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179581797
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179581797
    reference: chr 2
allele count: 1
allele frequency: 9.430937246543562e-6
allele num: 106034
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25639+25G>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21907+25G>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+21012G>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-43870C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24688+25G>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+21012G>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+21012G>A
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6697
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7576
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3095
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4888
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1891
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6470
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3951
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

2-179581800-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179581800
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179581800
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 107272
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+21009C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24688+22C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+21009C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25639+22C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21907+22C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-43867G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+21009C>T
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 33795
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6243
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1726
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3963
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6104
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2398
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

2-179581800-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179581800
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179581800
    reference: chr 2
allele count: 6
allele frequency: 5.59325825937803e-5
allele num: 107272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+21009C>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25639+22C>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+21009C>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21907+22C>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+21009C>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-43867G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24688+22C>A
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7889
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33795
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6104
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2398
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1929
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1369
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

2-179581806-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179581806
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179581806
    reference: chr 2
allele count: 1
allele frequency: 9.119428029473991e-6
allele num: 109656
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+21003A>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-43861T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+21003A>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24688+16A>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21907+16A>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25639+16A>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+21003A>G
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8462
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1805
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/2-179581808-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179581808
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179581808
    reference: chr 2
allele count: 1
allele frequency: 9.050428990334141e-6
allele num: 110492
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21907+14T>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+21001T>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+21001T>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+21001T>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24688+14T>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-43859A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25639+14T>G
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4864
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8634
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2129
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4860
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

2-179581818-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179581818
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179581818
    reference: chr 2
allele count: 1
allele frequency: 8.787191789247992e-6
allele num: 113802
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24688+4C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-43849G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25639+4C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21907+4C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+20991C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+20991C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+20991C>T
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2273
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3381
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2745
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35734
  bin: 6.25e1
  variant carriers: 0
hgvs: c.25639+4C>T
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/2-179581820-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179581820
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179581820
    reference: chr 2
allele count: 1
allele frequency: 8.751662815935028e-6
allele num: 114264
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-43847A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21907+2T>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+20989T>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25639+2T>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+20989T>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+20989T>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24688+2T>G
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9373
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2768
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6258
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3180
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
hgvs: c.25639+2T>G
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

2-179581820-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179581820
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179581820
    reference: chr 2
allele count: 1
allele frequency: 8.751662815935028e-6
allele num: 114264
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+20989T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+20989T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21907+2T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24688+2T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25639+2T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-43847A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+20989T>C
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9373
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1925
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2298
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6258
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2768
  bin: 7.75e1
  variant carriers: 0
hgvs: c.25639+2T>C
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

2-179581824-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179581824
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179581824
    reference: chr 2
allele count: 19
allele frequency: 1.646504211584457e-4
allele num: 115396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-43843T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+20985A>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+20985A>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24686A>G
  hgvsp: ENSP00000465570.1:p.Gln8229Arg
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+20985A>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21905A>G
  hgvsp: ENSP00000343764.6:p.Gln7302Arg
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25637A>G
  hgvsp: ENSP00000467141.1:p.Gln8546Arg
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4028
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 38405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9638
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2818
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2637
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6342
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln8546Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD

2-179581824-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179581824
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179581824
    reference: chr 2
allele count: 1
allele frequency: 8.665811639918195e-6
allele num: 115396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+20985A>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21905A>C
  hgvsp: ENSP00000343764.6:p.Gln7302Pro
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25637A>C
  hgvsp: ENSP00000467141.1:p.Gln8546Pro
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24686A>C
  hgvsp: ENSP00000465570.1:p.Gln8229Pro
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-43843T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+20985A>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+20985A>C
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36740
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6342
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln8546Pro
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/2-179581835-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179581835
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179581835
    reference: chr 2
allele count: 4674
allele frequency: 3.971045521741347e-2
allele num: 117702
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-43832C>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25626G>T
  hgvsp: ENSP00000467141.1:p.Gln8542His
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24675G>T
  hgvsp: ENSP00000465570.1:p.Gln8225His
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+20974G>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21894G>T
  hgvsp: ENSP00000343764.6:p.Gln7298His
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+20974G>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+20974G>T
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 282
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 1.75e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 3.75e1
  variant carriers: 609
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.25e1
  variant carriers: 422
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 152
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 9.75e1
  variant carriers: 226
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 4.75e1
  variant carriers: 531
genotype depth: GenotypeDepth
  all individuals: 35833
  bin: 2.25e1
  variant carriers: 181
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 184
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 4.25e1
  variant carriers: 561
genotype depth: GenotypeDepth
  all individuals: 10134
  bin: 2.75e1
  variant carriers: 348
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 1.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 4502
  bin: 3.25e1
  variant carriers: 498
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 5.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 5.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 8041
  bin: 9.75e1
  variant carriers: 4313
genotype quality: GenotypeQuality
  all individuals: 1811
  bin: 8.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 6018
  bin: 6.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 3.25e1
  variant carriers: 1
hgvs: p.Gln8542His
num of homozygotes: 261
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

2-179581842-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179581842
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179581842
    reference: chr 2
allele count: 61
allele frequency: 5.136150076621255e-4
allele num: 118766
alternate allele: A
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25619C>T
  hgvsp: ENSP00000467141.1:p.Ser8540Phe
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+20967C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+20967C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24668C>T
  hgvsp: ENSP00000465570.1:p.Ser8223Phe
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-43825G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+20967C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21887C>T
  hgvsp: ENSP00000343764.6:p.Ser7296Phe
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36155
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 11080
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4905
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5307
  bin: 9.75e1
  variant carriers: 61
genotype quality: GenotypeQuality
  all individuals: 3060
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36301
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser8540Phe
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/2-179581845-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179581845
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179581845
    reference: chr 2
allele count: 32
allele frequency: 2.688533405027558e-4
allele num: 119024
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24665G>T
  hgvsp: ENSP00000465570.1:p.Cys8222Phe
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21884G>T
  hgvsp: ENSP00000343764.6:p.Cys7295Phe
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25616G>T
  hgvsp: ENSP00000467141.1:p.Cys8539Phe
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+20964G>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+20964G>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-43822C>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+20964G>T
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4970
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36170
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11235
  bin: 2.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2152
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5292
  bin: 9.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 2583
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Cys8539Phe
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

2-179581848-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179581848
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179581848
    reference: chr 2
allele count: 2
allele frequency: 1.676698915175802e-5
allele num: 119282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21881C>T
  hgvsp: ENSP00000343764.6:p.Ser7294Phe
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+20961C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+20961C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24662C>T
  hgvsp: ENSP00000465570.1:p.Ser8221Phe
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25613C>T
  hgvsp: ENSP00000467141.1:p.Ser8538Phe
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-43819G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+20961C>T
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4967
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11340
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2594
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3072
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser8538Phe
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ

2-179581856-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179581856
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179581856
    reference: chr 2
allele count: 1
allele frequency: 8.361064196250898e-6
allele num: 119602
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-43811T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25605A>G
  hgvsp: ENST00000589042.1:c.25605A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21873A>G
  hgvsp: ENST00000342992.6:c.21873A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+20953A>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+20953A>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24654A>G
  hgvsp: ENST00000591111.1:c.24654A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+20953A>G
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11621
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3089
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6769
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly8535Gly
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-179581861-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179581861
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179581861
    reference: chr 2
allele count: 2
allele frequency: 1.669588446447951e-5
allele num: 119790
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21868G>T
  hgvsp: ENSP00000343764.6:p.Ala7290Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25600G>T
  hgvsp: ENSP00000467141.1:p.Ala8534Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+20948G>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-43806C>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+20948G>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24649G>T
  hgvsp: ENSP00000465570.1:p.Ala8217Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+20948G>T
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11839
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35868
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6764
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2169
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala8534Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

2-179581862-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179581862
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179581862
    reference: chr 2
allele count: 2
allele frequency: 1.668919708272835e-5
allele num: 119838
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+20947C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+20947C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25599C>T
  hgvsp: ENST00000589042.1:c.25599C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21867C>T
  hgvsp: ENST00000342992.6:c.21867C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-43805G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24648C>T
  hgvsp: ENST00000591111.1:c.24648C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+20947C>T
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5125
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5271
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2181
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile8533Ile
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

2-179581864-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179581864
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179581864
    reference: chr 2
allele count: 4
allele frequency: 3.335723935487099e-5
allele num: 119914
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-43803T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24646A>G
  hgvsp: ENSP00000465570.1:p.Ile8216Val
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+20945A>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25597A>G
  hgvsp: ENSP00000467141.1:p.Ile8533Val
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21865A>G
  hgvsp: ENSP00000343764.6:p.Ile7289Val
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+20945A>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+20945A>G
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11904
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36930
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5277
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2638
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile8533Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

2-179581866-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179581866
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179581866
    reference: chr 2
allele count: 2
allele frequency: 1.667722891164404e-5
allele num: 119924
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25595A>G
  hgvsp: ENSP00000467141.1:p.Asn8532Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21863A>G
  hgvsp: ENSP00000343764.6:p.Asn7288Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+20943A>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24644A>G
  hgvsp: ENSP00000465570.1:p.Asn8215Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-43801T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+20943A>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+20943A>G
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn8532Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

2-179581883-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179581883
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179581883
    reference: chr 2
allele count: 1
allele frequency: 8.325562808045825e-6
allele num: 120112
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25578C>A
  hgvsp: ENSP00000467141.1:p.Tyr8526Ter
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+20926C>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24627C>A
  hgvsp: ENSP00000465570.1:p.Tyr8209Ter
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21846C>A
  hgvsp: ENSP00000343764.6:p.Tyr7282Ter
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-43784G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+20926C>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+20926C>A
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5305
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6886
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Tyr8526Ter
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

2-179581891-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179581891
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179581891
    reference: chr 2
allele count: 10
allele frequency: 8.320852055250458e-5
allele num: 120180
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25570G>A
  hgvsp: ENSP00000467141.1:p.Gly8524Arg
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+20918G>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+20918G>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21838G>A
  hgvsp: ENSP00000343764.6:p.Gly7280Arg
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-43776C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24619G>A
  hgvsp: ENSP00000465570.1:p.Gly8207Arg
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+20918G>A
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12517
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6925
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3175
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36591
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly8524Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

2-179581892-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179581892
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179581892
    reference: chr 2
allele count: 9
allele frequency: 7.487645385114561e-5
allele num: 120198
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21837C>T
  hgvsp: ENST00000342992.6:c.21837C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+20917C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+20917C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25569C>T
  hgvsp: ENST00000589042.1:c.25569C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+20917C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24618C>T
  hgvsp: ENST00000591111.1:c.24618C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-43775G>A
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5417
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35030
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12588
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5298
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2225
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6950
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala8523Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

2-179581897-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179581897
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179581897
    reference: chr 2
allele count: 17
allele frequency: 1.41369790107441e-4
allele num: 120252
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.24613G>A
  hgvsp: ENSP00000465570.1:p.Asp8205Asn
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-43770C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+20912G>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.21832G>A
  hgvsp: ENSP00000343764.6:p.Asp7278Asn
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.25564G>A
  hgvsp: ENSP00000467141.1:p.Asp8522Asn
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+20912G>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+20912G>A
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5486
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12742
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5308
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2695
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36659
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp8522Asn
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum

2-219208255-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219208255
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219208255
    reference: chr 2
allele count: 1
allele frequency: 9.106141181612879e-6
allele num: 109816
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.634C>T
  hgvsp: ENST00000436005.2:c.634C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.742C>T
  hgvsp: ENST00000258362.3:c.742C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.814C>T
  hgvsp: ENST00000273077.4:c.814C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+7628G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2164
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8474
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32034
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6501
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2903
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36151
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7018
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu272Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum

2-219208273-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219208273
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219208273
    reference: chr 2
allele count: 1
allele frequency: 9.185435573354889e-6
allele num: 108868
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.760G>C
  hgvsp: ENSP00000258362.3:p.Val254Leu
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.652G>C
  hgvsp: ENSP00000414400.2:p.Val218Leu
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+7610C>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.832G>C
  hgvsp: ENSP00000273077.4:p.Val278Leu
  variant of: http://identifiers.org/hgnc/9153
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6036
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8917
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6499
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8345
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val278Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
reference allele: G
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

2-219208276-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219208276
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219208277
    reference: chr 2
allele count: 1
allele frequency: 9.240777703851557e-6
allele num: 108216
alternate allele: CT
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+7606dupA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.764dupT
  hgvsp: ENSP00000258362.3:p.Leu257AlafsTer4
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.836dupT
  hgvsp: ENSP00000273077.4:p.Leu281AlafsTer4
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.656dupT
  hgvsp: ENSP00000414400.2:p.Leu221AlafsTer4
  variant of: http://identifiers.org/hgnc/9153
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9005
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4001
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6524
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2818
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9013
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35686
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu281AlafsTer4
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum

2-219208276-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219208276
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219208276
    reference: chr 2
allele count: 34
allele frequency: 3.141864419309529e-4
allele num: 108216
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.835C>T
  hgvsp: ENST00000273077.4:c.835C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.655C>T
  hgvsp: ENST00000436005.2:c.655C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+7607G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.763C>T
  hgvsp: ENST00000258362.3:c.763C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9153
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29885
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4001
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9005
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35686
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9013
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6524
  bin: 9.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu279Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

2-219208280-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219208280
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219208280
    reference: chr 2
allele count: 1
allele frequency: 9.32001192961527e-6
allele num: 107296
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+7603C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.839G>A
  hgvsp: ENSP00000273077.4:p.Gly280Glu
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.659G>A
  hgvsp: ENSP00000414400.2:p.Gly220Glu
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.767G>A
  hgvsp: ENSP00000258362.3:p.Gly256Glu
  variant of: http://identifiers.org/hgnc/9153
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28703
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6779
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2751
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10153
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6501
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34795
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly280Glu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

2-219208280-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219208280
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219208280
    reference: chr 2
allele count: 3
allele frequency: 2.796003578884581e-5
allele num: 107296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.659G>T
  hgvsp: ENSP00000414400.2:p.Gly220Val
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.767G>T
  hgvsp: ENSP00000258362.3:p.Gly256Val
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+7603C>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.839G>T
  hgvsp: ENSP00000273077.4:p.Gly280Val
  variant of: http://identifiers.org/hgnc/9153
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28703
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6779
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8922
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2751
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10153
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34795
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6501
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly280Val
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum

2-219208295-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219208295
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219208295
    reference: chr 2
allele count: 1
allele frequency: 9.928909011477819e-6
allele num: 100716
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.782C>T
  hgvsp: ENSP00000258362.3:p.Thr261Ile
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.854C>T
  hgvsp: ENSP00000273077.4:p.Thr285Ile
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+7588G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.674C>T
  hgvsp: ENSP00000414400.2:p.Thr225Ile
  variant of: http://identifiers.org/hgnc/9153
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9704
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10576
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6498
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17981
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 545
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2383
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr285Ile
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/2-219208296-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219208296
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219208296
    reference: chr 2
allele count: 1
allele frequency: 1.010284698227961e-5
allele num: 98982
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.675C>A
  hgvsp: ENST00000436005.2:c.675C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.855C>A
  hgvsp: ENST00000273077.4:c.855C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.783C>A
  hgvsp: ENST00000258362.3:c.783C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+7587G>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
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  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 547
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 576
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genotype quality: GenotypeQuality
  all individuals: 342
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2080
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 20067
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6498
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr285Thr
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

2-219208312-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219208312
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219208312
    reference: chr 2
allele count: 1
allele frequency: 1.097164925831651e-5
allele num: 91144
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+7571C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.688+3G>A
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.868+3G>A
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.796+3G>A
  variant of: http://identifiers.org/hgnc/9153
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18802
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10120
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6495
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1598
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13383
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1692
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28818
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1704
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 8.25e1
  variant carriers: 0
hgvs: c.868+3G>A
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

2-219208319-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219208319
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219208319
    reference: chr 2
allele count: 3
allele frequency: 3.569473859553102e-5
allele num: 84046
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.688+10C>G
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+7564G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.868+10C>G
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.796+10C>G
  variant of: http://identifiers.org/hgnc/9153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14919
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21957
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32829
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2625
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1809
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3592
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

2-219208319-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219208319
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219208319
    reference: chr 2
allele count: 4
allele frequency: 4.759298479404136e-5
allele num: 84046
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.868+10C>T
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.688+10C>T
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+7564G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.796+10C>T
  variant of: http://identifiers.org/hgnc/9153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14919
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21957
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4613
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6498
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3592
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1809
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32829
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2625
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/2-219208320-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219208320
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219208320
    reference: chr 2
allele count: 2
allele frequency: 2.379422752040355e-5
allele num: 84054
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.688+11C>A
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+7563G>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.868+11C>A
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.796+11C>A
  variant of: http://identifiers.org/hgnc/9153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14992
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22011
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3600
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1758
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33151
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2612
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7070
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/2-219208326-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219208326
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219208326
    reference: chr 2
allele count: 5
allele frequency: 6.425909266161162e-5
allele num: 77810
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.868+17C>A
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.796+17C>A
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+7557G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.688+17C>A
  variant of: http://identifiers.org/hgnc/9153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22411
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16008
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5094
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2631
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1683
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6495
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33718
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4016
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

2-219208327-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219208327
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219208327
    reference: chr 2
allele count: 2
allele frequency: 2.621163272260229e-5
allele num: 76302
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.796+18T>C
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+7556A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.688+18T>C
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.868+18T>C
  variant of: http://identifiers.org/hgnc/9153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22328
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5678
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16100
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2609
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33354
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6494
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6595
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

2-219208330-TCCCCATCCTCCAGC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219208330
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219208316
    reference: chr 2
allele count: 1
allele frequency: 1.467911455580999e-5
allele num: 68124
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  variant of: http://identifiers.org/hgnc/9153
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8346
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16683
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20744
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6493
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9704
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2114
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30411
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
reference allele: TCCCCATCCTCCAGC
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

2-219208332-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219208332
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219208332
    reference: chr 2
allele count: 11
allele frequency: 1.605933193179164e-4
allele num: 68496
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+7551G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.868+23C>T
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.688+23C>T
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.796+23C>T
  variant of: http://identifiers.org/hgnc/9153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16897
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20605
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8483
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2237
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9790
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2115
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31568
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-219208340-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219208340
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219208340
    reference: chr 2
allele count: 9
allele frequency: 1.747030048916841e-4
allele num: 51516
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.868+31C>T
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+7543G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.796+31C>T
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.688+31C>T
  variant of: http://identifiers.org/hgnc/9153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14366
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18763
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14673
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16542
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3643
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6497
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22466
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/2-219208347-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219208347
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219208347
    reference: chr 2
allele count: 1
allele frequency: 2.609194802483953e-5
allele num: 38326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.796+38C>A
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+7536G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.688+38C>A
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.868+38C>A
  variant of: http://identifiers.org/hgnc/9153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21984
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17536
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8684
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14207
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6209
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4683
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1988
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/2-219208349-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219208349
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219208349
    reference: chr 2
allele count: 1
allele frequency: 2.71665308340125e-5
allele num: 36810
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.796+40C>A
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.688+40C>A
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+7534G>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.868+40C>A
  variant of: http://identifiers.org/hgnc/9153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7856
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17810
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22568
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19545
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6523
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4778
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13423
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6490
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2175
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP

2-219208349-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219208349
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219208349
    reference: chr 2
allele count: 4
allele frequency: 1.0866612333605e-4
allele num: 36810
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.688+40C>T
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+7534G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.796+40C>T
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.868+40C>T
  variant of: http://identifiers.org/hgnc/9153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7856
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17810
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22568
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2175
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6490
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 19545
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 541
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13423
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
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genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

2-219208350-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219208350
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219208350
    reference: chr 2
allele count: 6
allele frequency: 1.741250217656277e-4
allele num: 34458
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.868+41G>A
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.688+41G>A
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.796+41G>A
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+7533C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17997
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6787
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23433
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5548
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 543
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2664
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11800
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19479
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6957
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD

2-219208350-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219208350
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219208350
    reference: chr 2
allele count: 1
allele frequency: 2.902083696093795e-5
allele num: 34458
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.688+41G>C
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+7533C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.796+41G>C
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.868+41G>C
  variant of: http://identifiers.org/hgnc/9153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17997
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6787
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23433
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6493
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11800
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19479
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2664
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6957
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

2-219209136-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219209136
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219209136
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 24020
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.689-42A>G
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.797-42A>G
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.869-42A>G
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+6747T>C
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 33996
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11142
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5785
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2163
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1813
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26523
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3581
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3948
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5365
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum

2-219209144-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219209144
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219209144
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 24142
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.797-34C>T
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.689-34C>T
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.869-34C>T
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+6739G>A
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12774
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33054
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 609
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2494
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17245
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2575
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2092
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1391
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 148
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.781641168289291e-4
allele num: 7190
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6840
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5088
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44744
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e-1

DP
type: SiteQuality
SIO_000300: 1.013934e6

FS
type: SiteQuality
SIO_000300: 1.194e0

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

QD
type: SiteQuality
SIO_000300: 1.387e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.36e0

GenotypeQuality
all individuals: 205
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1391
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 14035
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 785
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1592
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4786
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5932
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11998
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 7.31814411865151e-5
allele num: 40994
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6700
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6146
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.123e0

DP
type: SiteQuality
SIO_000300: 9.52933e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.51e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.844e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.192e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.576e-1

GenotypeQuality
all individuals: 4697
bin: 9.75e1
variant carriers: 3619

GenotypeQuality
all individuals: 2039
bin: 7.5e0
variant carriers: 9

GenotypeQuality
all individuals: 335
bin: 4.25e1
variant carriers: 21

GenotypeQuality
all individuals: 435
bin: 5.75e1
variant carriers: 33

GenotypeQuality
all individuals: 28124
bin: 2.25e1
variant carriers: 21

GenotypeQuality
all individuals: 1058
bin: 1.75e1
variant carriers: 18

GenotypeQuality
all individuals: 2005
bin: 3.25e1
variant carriers: 30

GenotypeQuality
all individuals: 340
bin: 2.5e0
variant carriers: 4

GenotypeQuality
all individuals: 572
bin: 1.25e1
variant carriers: 13

GenotypeQuality
all individuals: 12871
bin: 6.25e1
variant carriers: 35

GenotypeQuality
all individuals: 244
bin: 9.25e1
variant carriers: 55

GenotypeQuality
all individuals: 518
bin: 7.75e1
variant carriers: 64

European (Non-Finnish)
type: Population
allele count: 1588
allele frequency: 3.95182162054549e-2
allele num: 40184
num of homozygotes: 25

Other
type: Population
allele count: 23
allele frequency: 3.898305084745763e-2
allele num: 590
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 341
allele frequency: 7.221516306649725e-2
allele num: 4722
num of homozygotes: 13

South Asian
type: Population
allele count: 135
allele frequency: 1.135598923283984e-2
allele num: 11888
num of homozygotes: 2

Latino
type: Population
allele count: 432
allele frequency: 7.236180904522613e-2
allele num: 5970
num of homozygotes: 14

African
type: Population
allele count: 34
allele frequency: 5.131300935707818e-3
allele num: 6626
num of homozygotes: 0

East Asian
type: Population
allele count: 1562
allele frequency: 2.703357563170647e-1
allele num: 5778
num of homozygotes: 171

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-2

DP
type: SiteQuality
SIO_000300: 9.61108e5

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.89e-1

QD
type: SiteQuality
SIO_000300: 1.52e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

GenotypeQuality
all individuals: 13456
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 991
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2422
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2113
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31158
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 192
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 222
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 16
allele frequency: 2.45474071801166e-3
allele num: 6518
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.21141088014153e-4
allele num: 4522
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4796
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 5.231219920485457e-4
allele num: 38232
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11688
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.773049645390071e-3
allele num: 564
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 1.288185498711815e-3
allele num: 5434
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.9857e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.586e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-1

QD
type: SiteQuality
SIO_000300: 1.265e1

GenotypeQuality
all individuals: 466
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 5116
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.749367645441549e-5
allele num: 36372
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 538
num of homozygotes: 0

African
type: Population
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allele frequency: 1.589825119236884e-4
allele num: 6290
num of homozygotes: 0

South Asian
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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

VQSLOD
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.698e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.28e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 36372
num of homozygotes: 0

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

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

Other
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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
allele num: 4340
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 8.750437521876094e-5
allele num: 11428
num of homozygotes: 0

InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
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FS
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.91e-1

QD
type: SiteQuality
SIO_000300: 1.456e1

BaseQRankSum
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SIO_000300: 1.28e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4062
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4106
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 4576
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 6.00672753483902e-5
allele num: 33296
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.405e0

DP
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MQ
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SIO_000300: 6.0e1

ReadPosRankSum
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BaseQRankSum
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 7.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.02e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.45e0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5796
num of homozygotes: 0

Latino
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allele count: 0
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

European (Non-Finnish)
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allele count: 1
allele frequency: 3.086991418163858e-5
allele num: 32394
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 500
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10874
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.13e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.69e-1

BaseQRankSum
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SIO_000300: -5.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

DP
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.007e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3344
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5200
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10064
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.626867836936022e-5
allele num: 27572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 460
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.49e-1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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BaseQRankSum
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SIO_000300: -4.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.64e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-2

DP
type: SiteQuality
SIO_000300: 7.59048e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.87e-1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 420
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2910
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 7.562662057044079e-4
allele num: 9256
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2908
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3148
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 24092
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.449e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-2

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.223e0

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.99e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23948
num of homozygotes: 0

South Asian
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allele count: 7
allele frequency: 7.572479446127218e-4
allele num: 9244
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2892
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 418
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3126
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2886
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.23e-1

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

Other
type: Population
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 15
allele frequency: 6.353240152477764e-4
allele num: 23610
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 9160
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.02321e5

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Other
type: Population
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Latino
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 4.913522012578617e-5
allele num: 20352
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East Asian
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South Asian
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QD
type: SiteQuality
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MQ
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VQSLOD
type: SiteQuality
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DP
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FS
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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East Asian
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allele frequency: 8.375209380234506e-4
allele num: 2388
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Latino
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South Asian
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Other
type: Population
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FS
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ReadPosRankSum
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VQSLOD
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MQRankSum
type: SiteQuality
SIO_000300: -3.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.133e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.52e-2

MQ
type: SiteQuality
SIO_000300: 5.875e1

DP
type: SiteQuality
SIO_000300: 6.40317e5

ClippingRankSum
type: SiteQuality
SIO_000300: -7.79e-1

QD
type: SiteQuality
SIO_000300: 1.366e1

GenotypeQuality
all individuals: 705
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 686
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17963
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 658
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3452
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1464
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1140
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1736
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3658
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2444
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 312
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1942
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.383508577753182e-4
allele num: 7228
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16948
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.029e-1

DP
type: SiteQuality
SIO_000300: 5.74769e5

QD
type: SiteQuality
SIO_000300: 1.565e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.589e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.66e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.72e-1

GenotypeQuality
all individuals: 686
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 258
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3452
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 658
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3658
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2444
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1942
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.900401227283455e-5
allele num: 16948
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7228
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1736
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 312
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.74769e5

VQSLOD
type: SiteQuality
SIO_000300: -2.029e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.589e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.565e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.66e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 458
bin: 7.75e1
variant carriers: 139

GenotypeQuality
all individuals: 18553
bin: 7.5e0
variant carriers: 107

GenotypeQuality
all individuals: 2668
bin: 1.25e1
variant carriers: 85

GenotypeQuality
all individuals: 3976
bin: 9.75e1
variant carriers: 3123

GenotypeQuality
all individuals: 473
bin: 3.75e1
variant carriers: 43

GenotypeQuality
all individuals: 1599
bin: 2.75e1
variant carriers: 184

GenotypeQuality
all individuals: 789
bin: 6.75e1
variant carriers: 241

GenotypeQuality
all individuals: 2452
bin: 6.25e1
variant carriers: 212

GenotypeQuality
all individuals: 321
bin: 8.75e1
variant carriers: 222

GenotypeQuality
all individuals: 390
bin: 8.25e1
variant carriers: 174

South Asian
type: Population
allele count: 1357
allele frequency: 1.9712376525276e-1
allele num: 6884
num of homozygotes: 114

European (Finnish)
type: Population
allele count: 180
allele frequency: 7.627118644067797e-2
allele num: 2360
num of homozygotes: 4

East Asian
type: Population
allele count: 78
allele frequency: 4.452054794520548e-2
allele num: 1752
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 570
allele frequency: 3.570086433671552e-2
allele num: 15966
num of homozygotes: 15

Other
type: Population
allele count: 34
allele frequency: 1.140939597315436e-1
allele num: 298
num of homozygotes: 1

African
type: Population
allele count: 642
allele frequency: 1.791294642857143e-1
allele num: 3584
num of homozygotes: 56

Latino
type: Population
allele count: 414
allele frequency: 2.435294117647059e-1
allele num: 1700
num of homozygotes: 28

QD
type: SiteQuality
SIO_000300: 1.465e1

VQSLOD
type: SiteQuality
SIO_000300: 4.56e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

FS
type: SiteQuality
SIO_000300: 1.879e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.46e-2

DP
type: SiteQuality
SIO_000300: 5.49432e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

GenotypeQuality
all individuals: 2066
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1421
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22414
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 19841
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3860
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 983
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 120
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.602564102564103e-3
allele num: 1248
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3162
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2208
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14902
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.0911e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.98e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.376e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.186e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.87e-2

FS
type: SiteQuality
SIO_000300: 3.118e0

QD
type: SiteQuality
SIO_000300: 1.486e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1439
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 19207
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 641
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2005
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5632
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3106
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1580
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1206
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14660
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2182
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.39e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.703e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.02046e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.02e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.27e-1

GenotypeQuality
all individuals: 242
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1875
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2581
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 973
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1538
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.250975292587776e-4
allele num: 3076
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1170
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14472
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5576
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.98052e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.11e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

QD
type: SiteQuality
SIO_000300: 1.523e1

VQSLOD
type: SiteQuality
SIO_000300: -6.951000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 813
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1510
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21959
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1469
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 971
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 845
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1956
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4068
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2632
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1164
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11956
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.85e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.735e0

MQRankSum
type: SiteQuality
SIO_000300: -1.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

DP
type: SiteQuality
SIO_000300: 4.64579e5

QD
type: SiteQuality
SIO_000300: 1.565e1

GenotypeQuality
all individuals: 445
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5380
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6781
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1409
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 234
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 971
bin: 9.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1914
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 228
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1078
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2520
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3814
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.99e0

MQ
type: SiteQuality
SIO_000300: 5.616e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.04e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.585e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 4.64971e5

GenotypeQuality
all individuals: 6395
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1716
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1206
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6218
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 754
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3908
bin: 9.75e1
variant carriers: 27

GenotypeQuality
all individuals: 3405
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6324
num of homozygotes: 0

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

South Asian
type: Population
allele count: 27
allele frequency: 3.039171544349392e-3
allele num: 8884
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7488
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8960
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.746727836999056e-5
allele num: 59288
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.495e0

DP
type: SiteQuality
SIO_000300: 1.137526e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

QD
type: SiteQuality
SIO_000300: 1.486e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

FS
type: SiteQuality
SIO_000300: 2.472e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3804
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6386
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1202
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1401
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1230
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2837
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 925
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1562
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3546
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8934
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6336
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10432
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8984
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.360553819269415e-5
allele num: 59514
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7524
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.373e-1

MQ
type: SiteQuality
SIO_000300: 5.878e1

MQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

FS
type: SiteQuality
SIO_000300: 2.564e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.323e0

QD
type: SiteQuality
SIO_000300: 1.061e1

DP
type: SiteQuality
SIO_000300: 1.141996e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.41e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 867
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1881
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6428
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7816
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10750
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61202
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.038637307852098e-4
allele num: 9628
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9172
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.315e0

QD
type: SiteQuality
SIO_000300: 2.03e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

FS
type: SiteQuality
SIO_000300: 5.099e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.482e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.326219e6

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7850
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9192
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10786
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61316
num of homozygotes: 0

South Asian
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: 764
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.66e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.334593e6

QD
type: SiteQuality
SIO_000300: 1.409e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9192
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10786
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.553277415346381e-4
allele num: 6438
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61316
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7850
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.409e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.56e-1

DP
type: SiteQuality
SIO_000300: 1.334593e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1369
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9232
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9996
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61966
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: 0
allele frequency: 0.0e0
allele num: 10876
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7964
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.547e0

QD
type: SiteQuality
SIO_000300: 9.57e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

DP
type: SiteQuality
SIO_000300: 1.358106e6

GenotypeQuality
all individuals: 5479
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
all individuals: 290
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9996
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10876
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61966
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: 772
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9232
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 7.533902561526871e-4
allele num: 7964
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.547e0

MQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.33e-1

QD
type: SiteQuality
SIO_000300: 9.57e0

DP
type: SiteQuality
SIO_000300: 1.358106e6

GenotypeQuality
all individuals: 2582
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8154
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.58624409124076e-5
allele num: 63042
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9348
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10794
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11040
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

DP
type: SiteQuality
SIO_000300: 1.395387e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.14e0

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.06e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.11e0

QD
type: SiteQuality
SIO_000300: 1.224e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9384
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8210
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11084
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.577983967682888e-5
allele num: 63372
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.63e-1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.71e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8394
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12726
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11256
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.549426712116517e-5
allele num: 64540
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

InbreedingCoeff
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SIO_000300: 6.1e-3

BaseQRankSum
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ClippingRankSum
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DP
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.28e-1

QD
type: SiteQuality
SIO_000300: 1.244e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8412
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9546
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.545595054095827e-5
allele num: 64700
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.73e0

QD
type: SiteQuality
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FS
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MQRankSum
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.45281e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 269
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 35839
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9546
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11274
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12974
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8412
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.545595054095827e-5
allele num: 64700
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.45281e6

VQSLOD
type: SiteQuality
SIO_000300: -7.886e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.91e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.95e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.85e-1

QD
type: SiteQuality
SIO_000300: 1.475e1

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36740
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 980
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1944
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2334
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4048
bin: 9.75e1
variant carriers: 19

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65052
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13592
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9598
num of homozygotes: 0

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

East Asian
type: Population
allele count: 19
allele frequency: 2.247456825171516e-3
allele num: 8454
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.467022e6

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

FS
type: SiteQuality
SIO_000300: 1.97e0

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.53e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

QD
type: SiteQuality
SIO_000300: 1.186e1

GenotypeQuality
all individuals: 1944
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2334
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 980
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2818
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2637
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4048
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11326
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65052
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.041883725776203e-4
allele num: 9598
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13592
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 1.186e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.5e-2

MQ
type: SiteQuality
SIO_000300: 5.938e1

FS
type: SiteQuality
SIO_000300: 1.97e0

DP
type: SiteQuality
SIO_000300: 1.467022e6

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

GenotypeQuality
all individuals: 34684
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 130
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 43
bin: 1.75e1
variant carriers: 3

GenotypeQuality
all individuals: 220
bin: 3.75e1
variant carriers: 3

GenotypeQuality
all individuals: 102
bin: 7.5e0
variant carriers: 3

GenotypeQuality
all individuals: 232
bin: 4.75e1
variant carriers: 9

GenotypeQuality
all individuals: 30
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 234
bin: 2.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2271
bin: 7.25e1
variant carriers: 12

GenotypeQuality
all individuals: 894
bin: 9.25e1
variant carriers: 14

GenotypeQuality
all individuals: 751
bin: 8.75e1
variant carriers: 7

GenotypeQuality
all individuals: 2686
bin: 7.75e1
variant carriers: 18

Other
type: Population
allele count: 27
allele frequency: 3.089244851258581e-2
allele num: 874
num of homozygotes: 1

African
type: Population
allele count: 39
allele frequency: 4.032258064516129e-3
allele num: 9672
num of homozygotes: 0

Latino
type: Population
allele count: 503
allele frequency: 4.409959670348939e-2
allele num: 11406
num of homozygotes: 18

European (Non-Finnish)
type: Population
allele count: 1762
allele frequency: 2.680581756222236e-2
allele num: 65732
num of homozygotes: 26

East Asian
type: Population
allele count: 1835
allele frequency: 2.153250410701713e-1
allele num: 8522
num of homozygotes: 202

European (Finnish)
type: Population
allele count: 360
allele frequency: 5.487804878048781e-2
allele num: 6560
num of homozygotes: 12

South Asian
type: Population
allele count: 148
allele frequency: 9.908944831280129e-3
allele num: 14936
num of homozygotes: 2

FS
type: SiteQuality
SIO_000300: 1.189e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.93e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.25e0

QD
type: SiteQuality
SIO_000300: 1.325e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.43e-1

DP
type: SiteQuality
SIO_000300: 1.600876e6

MQRankSum
type: SiteQuality
SIO_000300: 1.31e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.281e0

GenotypeQuality
all individuals: 2569
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2150
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 931
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1127
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6630
bin: 6.75e1
variant carriers: 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: 8562
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.91914022517912e-4
allele num: 15632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 54
allele frequency: 8.181570255446804e-4
allele num: 66002
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.031353135313531e-4
allele num: 9696
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.045994517209869e-4
allele num: 6566
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.753501400560224e-5
allele num: 11424
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.848e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.81e-1

DP
type: SiteQuality
SIO_000300: 1.574296e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.44e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

FS
type: SiteQuality
SIO_000300: 1.17e0

VQSLOD
type: SiteQuality
SIO_000300: 4.24e0

QD
type: SiteQuality
SIO_000300: 1.196e1

GenotypeQuality
all individuals: 87
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36440
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3061
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6654
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66054
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 32
allele frequency: 2.024291497975709e-3
allele num: 15808
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.044e0

FS
type: SiteQuality
SIO_000300: 1.273e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

QD
type: SiteQuality
SIO_000300: 1.164e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.7e-2

DP
type: SiteQuality
SIO_000300: 1.578053e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

GenotypeQuality
all individuals: 2157
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36664
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1128
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 942
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6697
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5262
bin: 9.75e1
variant carriers: 2

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15994
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66112
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.05761316872428e-4
allele num: 9720
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

QD
type: SiteQuality
SIO_000300: 1.147e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.22e-1

DP
type: SiteQuality
SIO_000300: 1.58085e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.55e0

FS
type: SiteQuality
SIO_000300: 1.743e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 157
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 620
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 947
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2174
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36568
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2613
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5266
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510574018126888e-5
allele num: 66200
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16198
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

QD
type: SiteQuality
SIO_000300: 1.186e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

MQ
type: SiteQuality
SIO_000300: 5.762e1

VQSLOD
type: SiteQuality
SIO_000300: -2.097e0

MQRankSum
type: SiteQuality
SIO_000300: 1.56e0

DP
type: SiteQuality
SIO_000300: 1.586026e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-1

FS
type: SiteQuality
SIO_000300: 2.154e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

GenotypeQuality
all individuals: 3106
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36662
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1129
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5268
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2620
bin: 7.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.744896178677369e-4
allele num: 11462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9746
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16320
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66236
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.92e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.929e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.58e-1

FS
type: SiteQuality
SIO_000300: 1.3498e1

DP
type: SiteQuality
SIO_000300: 1.591312e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.24e-1

QD
type: SiteQuality
SIO_000300: 9.039999999999999e0

GenotypeQuality
all individuals: 6793
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2632
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36749
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 945
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variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3102
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1130
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.018685664261781e-5
allele num: 66254
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9750
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.82e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

FS
type: SiteQuality
SIO_000300: 2.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.57e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.1e-2

DP
type: SiteQuality
SIO_000300: 1.59199e6

VQSLOD
type: SiteQuality
SIO_000300: 2.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.596e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

QD
type: SiteQuality
SIO_000300: 8.289999999999999e0

GenotypeQuality
all individuals: 6817
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2190
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3115
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1135
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 949
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 2.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66294
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.498950314905528e-4
allele num: 8574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9750
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 1.34e1

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-2

FS
type: SiteQuality
SIO_000300: 1.969e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

DP
type: SiteQuality
SIO_000300: 1.592683e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.49e0

GenotypeQuality
all individuals: 1136
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3121
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36874
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5275
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 950
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6828
bin: 6.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9748
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.724480893386844e-5
allele num: 11462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508204633204633e-5
allele num: 66304
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.6e-2

MQ
type: SiteQuality
SIO_000300: 5.883e1

FS
type: SiteQuality
SIO_000300: 3.56e0

QD
type: SiteQuality
SIO_000300: 1.102e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

DP
type: SiteQuality
SIO_000300: 1.59321e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.44e0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.36e-1

GenotypeQuality
all individuals: 102
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36564
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2675
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1148
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3154
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 954
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5283
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505933377507379e-5
allele num: 66404
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9766
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.3e-1

QD
type: SiteQuality
SIO_000300: 1.787e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.599099e6

MQRankSum
type: SiteQuality
SIO_000300: 6.17e-1

MQ
type: SiteQuality
SIO_000300: 5.93e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.125e0

GenotypeQuality
all individuals: 97
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 2666
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5295
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 962
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1153
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2220
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.354401805869075e-4
allele num: 66450
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.712319219376198e-5
allele num: 11478
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.39e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.377e1

MQRankSum
type: SiteQuality
SIO_000300: 3.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.96e-1

DP
type: SiteQuality
SIO_000300: 1.603555e6

GenotypeQuality
all individuals: 3181
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2671
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1162
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36603
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 965
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.083465141744738e-5
allele num: 16438
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.203767793192693e-4
allele num: 66458
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

QD
type: SiteQuality
SIO_000300: 1.508e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.62e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e-1

FS
type: SiteQuality
SIO_000300: 5.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

DP
type: SiteQuality
SIO_000300: 1.604425e6

VQSLOD
type: SiteQuality
SIO_000300: 3.54e0

GenotypeQuality
all individuals: 123
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2246
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 975
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3205
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1169
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7010
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.52114390021296e-4
allele num: 6574
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.706251088281386e-5
allele num: 11486
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.255910485471936e-4
allele num: 66492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.98e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.85e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.74e-1

DP
type: SiteQuality
SIO_000300: 1.607335e6

QD
type: SiteQuality
SIO_000300: 1.361e1

MQRankSum
type: SiteQuality
SIO_000300: 2.35e-1

GenotypeQuality
all individuals: 114
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 640
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.634627958676605e-5
allele num: 61176
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10564
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5132
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9280
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14652
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8212
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.46e0

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-1

DP
type: SiteQuality
SIO_000300: 1.601931e6

VQSLOD
type: SiteQuality
SIO_000300: -8.981e-1

QD
type: SiteQuality
SIO_000300: 7.98e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.63e-1

GenotypeQuality
all individuals: 348
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2860
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36203
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.647337901950448e-5
allele num: 60704
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10444
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14540
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9212
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.411e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.24e-1

QD
type: SiteQuality
SIO_000300: 1.268e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

VQSLOD
type: SiteQuality
SIO_000300: 5.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.24e-1

DP
type: SiteQuality
SIO_000300: 1.593887e6

GenotypeQuality
all individuals: 794
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5002
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8088
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9154
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14458
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.656561640658649e-5
allele num: 60366
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.132e0

VQSLOD
type: SiteQuality
SIO_000300: 5.04e0

QD
type: SiteQuality
SIO_000300: 1.359e1

DP
type: SiteQuality
SIO_000300: 1.586924e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-1

GenotypeQuality
all individuals: 112
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2818
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 766
bin: 7.75e1
variant carriers: 1

Latino
type: Population
allele count: 3
allele frequency: 2.896871378910776e-4
allele num: 10356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.313123281317298e-5
allele num: 60366
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14458
num of homozygotes: 0

African
type: Population
allele count: 29
allele frequency: 3.16801398295827e-3
allele num: 9154
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5002
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8088
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 1.359e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.132e0

DP
type: SiteQuality
SIO_000300: 1.586924e6

VQSLOD
type: SiteQuality
SIO_000300: 5.04e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-1

GenotypeQuality
all individuals: 610
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4942
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.671514057433223e-5
allele num: 59826
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8042
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9086
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14384
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10236
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.911e0

DP
type: SiteQuality
SIO_000300: 1.570223e6

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
SIO_000300: -5.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

QD
type: SiteQuality
SIO_000300: 1.012e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.166e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.99e-1

GenotypeQuality
all individuals: 428
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 343
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10236
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.201188641866608e-4
allele num: 9086
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.671514057433223e-5
allele num: 59826
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4942
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8042
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e-1

QD
type: SiteQuality
SIO_000300: 1.012e1

VQSLOD
type: SiteQuality
SIO_000300: 1.99e-1

DP
type: SiteQuality
SIO_000300: 1.570223e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.166e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
SIO_000300: 1.911e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.24e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.46e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9434
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4564
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.301401869158878e-5
allele num: 13696
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56124
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.879e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.045e0

FS
type: SiteQuality
SIO_000300: 2.064e0

MQ
type: SiteQuality
SIO_000300: 5.988e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

DP
type: SiteQuality
SIO_000300: 1.453158e6

MQRankSum
type: SiteQuality
SIO_000300: -1.571e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.82e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.011e0

QD
type: SiteQuality
SIO_000300: 9.289999999999999e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1699
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variant carriers: 0

GenotypeQuality
all individuals: 22180
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13546
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.815475109836244e-5
allele num: 55082
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4462
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9228
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

FS
type: SiteQuality
SIO_000300: 2.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.487e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

DP
type: SiteQuality
SIO_000300: 1.419238e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.840000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.35e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.78e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3986
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50594
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7926
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6802
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8264
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 678
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.755545214828603e-5
allele num: 12894
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.48e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.1e-2

FS
type: SiteQuality
SIO_000300: 8.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.3e0

VQSLOD
type: SiteQuality
SIO_000300: 9.8e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

QD
type: SiteQuality
SIO_000300: 1.055e1

DP
type: SiteQuality
SIO_000300: 1.278216e6

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3566
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46624
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6242
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7342
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.631055292774425e-4
allele num: 12262
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.355013550135501e-4
allele num: 7380
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

FS
type: SiteQuality
SIO_000300: 1.548e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-2

DP
type: SiteQuality
SIO_000300: 1.180528e6

MQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

QD
type: SiteQuality
SIO_000300: 1.231e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7380
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7342
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46624
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 6.408202499198974e-4
allele num: 6242
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12262
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3566
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

FS
type: SiteQuality
SIO_000300: 1.548e0

DP
type: SiteQuality
SIO_000300: 1.180528e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

QD
type: SiteQuality
SIO_000300: 1.231e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 84
bin: 5.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.142887755539365e-5
allele num: 46666
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6212
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.354279523293608e-4
allele num: 7384
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7346
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.599999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.953e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-1

QD
type: SiteQuality
SIO_000300: 1.761e1

MQRankSum
type: SiteQuality
SIO_000300: -7.01e-1

DP
type: SiteQuality
SIO_000300: 1.178433e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.55e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.328000000000001e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 903
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3202
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11768
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.161062604495634e-4
allele num: 43064
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6918
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5648
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.63e-1

FS
type: SiteQuality
SIO_000300: 3.928e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.112813e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.37e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

QD
type: SiteQuality
SIO_000300: 1.49e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3439
bin: 6.25e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6428
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.742258263385024e-5
allele num: 42174
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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African
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allele count: 0
allele frequency: 0.0e0
allele num: 6798
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3142
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.28e0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.099152e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e-1

FS
type: SiteQuality
SIO_000300: 7.782e0

VQSLOD
type: SiteQuality
SIO_000300: 3.96e-1

QD
type: SiteQuality
SIO_000300: 1.743e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2588
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 526
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5496
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South Asian
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allele count: 0
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East Asian
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allele count: 1
allele frequency: 2.07641196013289e-4
allele num: 4816
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African
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allele frequency: 0.0e0
allele num: 6186
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.289e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.05e-2

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.54e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.59e-1

DP
type: SiteQuality
SIO_000300: 1.049518e6

MQRankSum
type: SiteQuality
SIO_000300: -2.261e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.52e-1

QD
type: SiteQuality
SIO_000300: 1.76e0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 9

GenotypeQuality
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bin: 8.75e1
variant carriers: 1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6222
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37770
num of homozygotes: 0

East Asian
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allele count: 11
allele frequency: 2.276490066225165e-3
allele num: 4832
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10980
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2638
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 526
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.046177e6

QD
type: SiteQuality
SIO_000300: 2.768e1

FS
type: SiteQuality
SIO_000300: 1.513e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.05e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.51e-1

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

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 1

European (Non-Finnish)
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allele count: 6
allele frequency: 2.153316106804479e-4
allele num: 27864
num of homozygotes: 0

East Asian
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African
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allele frequency: 1.981767736821245e-4
allele num: 5046
num of homozygotes: 0

Latino
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allele frequency: 5.750431282346176e-4
allele num: 3478
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9760
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1694
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.598e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.16e-2

DP
type: SiteQuality
SIO_000300: 9.49739e5

QD
type: SiteQuality
SIO_000300: 1.347e1

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 6489
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 19351
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4048
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2044
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1004
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8916
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.992012779552715e-5
allele num: 20032
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1958
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.45e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.213e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.8722e5

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.06e0

GenotypeQuality
all individuals: 546
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 888
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3948
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 5.1440329218107e-4
allele num: 1944
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8834
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1844
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19032
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

QD
type: SiteQuality
SIO_000300: 1.36e1

FS
type: SiteQuality
SIO_000300: 3.478e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.31e-2

DP
type: SiteQuality
SIO_000300: 8.78861e5

GenotypeQuality
all individuals: 888
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4778
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 335
bin: 8.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.254308532997058e-5
allele num: 19032
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 3.184713375796179e-3
allele num: 314
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8834
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 5.065856129685917e-4
allele num: 3948
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1944
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1844
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.478e0

DP
type: SiteQuality
SIO_000300: 8.78861e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.31e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

QD
type: SiteQuality
SIO_000300: 1.36e1

GenotypeQuality
all individuals: 342
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 817
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6493
bin: 9.75e1
variant carriers: 9

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.147578609134726e-4
allele num: 8714
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 302
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1748
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.714089818306479e-4
allele num: 17502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1570
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 5.274261603375527e-4
allele num: 3792
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.881e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.46e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.73e0

MQRankSum
type: SiteQuality
SIO_000300: -3.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.68942e5

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.295e1

GenotypeQuality
all individuals: 5548
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 6.369426751592356e-4
allele num: 1570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3792
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1748
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 302
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8714
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.881e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.46e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

QD
type: SiteQuality
SIO_000300: 1.295e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.11e-1

DP
type: SiteQuality
SIO_000300: 8.68942e5

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4833
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7950
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 444
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 924
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1726
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2918
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9808
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.218e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.55e-2

DP
type: SiteQuality
SIO_000300: 5.76823e5

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1