18-29477770-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29477770
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 29477770
    reference: chr 18
allele count: 6475
allele frequency: 5.346732506482139e-2
allele num: 121102
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153339
  ensembl protein: ENSP00000464591
  ensembl transcript: ENST00000582513
  gene symbol: TRAPPC8
  hgvsc: ENST00000582513.1:c.1575C>T
  hgvsp: ENST00000582513.1:c.1575C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29169
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153339
  ensembl protein: ENSP00000462550
  ensembl transcript: ENST00000580104
  gene symbol: TRAPPC8
  hgvsc: ENST00000580104.1:c.1575C>T
  hgvsp: ENST00000580104.1:c.1575C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29169
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153339
  ensembl protein: ENSP00000463764
  ensembl transcript: ENST00000582539
  gene symbol: TRAPPC8
  hgvsc: ENST00000582539.1:c.1413C>T
  hgvsp: ENST00000582539.1:c.1413C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29169
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000153339
  ensembl protein: ENSP00000283351
  ensembl transcript: ENST00000283351
  gene symbol: TRAPPC8
  hgvsc: ENST00000283351.4:c.1575C>T
  hgvsp: ENST00000283351.4:c.1575C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29169
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11123
  bin: 2.75e1
  variant carriers: 170
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 4.25e1
  variant carriers: 631
genotype depth: GenotypeDepth
  all individuals: 37458
  bin: 2.25e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.25e1
  variant carriers: 590
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 5.75e1
  variant carriers: 662
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 3.25e1
  variant carriers: 293
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.75e1
  variant carriers: 282
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 5.25e1
  variant carriers: 655
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.75e1
  variant carriers: 173
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 4.75e1
  variant carriers: 686
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 212
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.25e1
  variant carriers: 352
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 6.75e1
  variant carriers: 454
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.75e1
  variant carriers: 433
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 3.75e1
  variant carriers: 467
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4734
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7956
  bin: 9.75e1
  variant carriers: 6205
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 8.25e1
  variant carriers: 7
hgvs: p.Leu525Leu
num of homozygotes: 225
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

16-31120747-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31120747
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31120747
    reference: chr 16
allele count: 2
allele frequency: 1.741159263837863e-5
allele num: 114866
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000454947
  ensembl transcript: ENST00000567676
  gene symbol: BCKDK
  hgvsc: ENST00000567676.1:c.195+8A>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.195+8A>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.195+8A>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.403+8A>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.195+8A>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.195+8A>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.195+8A>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.195+8A>G
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6900
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29123
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6320
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13271
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6020
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3010
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 5.25e1
  variant carriers: 0
hgvs: c.195+8A>G
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: A
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

16-31120750-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31120750
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31120750
    reference: chr 16
allele count: 1
allele frequency: 8.698072507132419e-6
allele num: 114968
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000454947
  ensembl transcript: ENST00000567676
  gene symbol: BCKDK
  hgvsc: ENST00000567676.1:c.195+11G>C
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.195+11G>C
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.195+11G>C
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.195+11G>C
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.403+11G>C
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.195+11G>C
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.195+11G>C
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.195+11G>C
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6379
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7361
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28727
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2625
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2597
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

16-31120756-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31120756
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31120756
    reference: chr 16
allele count: 8
allele frequency: 6.955433062651063e-5
allele num: 115018
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.195+17C>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.403+17C>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.195+17C>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000454947
  ensembl transcript: ENST00000567676
  gene symbol: BCKDK
  hgvsc: ENST00000567676.1:c.195+17C>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.195+17C>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.195+17C>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.195+17C>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.195+17C>G
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7881
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27937
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13390
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3833
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2803
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD

16-31120760-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31120760
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31120760
    reference: chr 16
allele count: 24
allele frequency: 2.085288291106245e-4
allele num: 115092
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000454947
  ensembl transcript: ENST00000567676
  gene symbol: BCKDK
  hgvsc: ENST00000567676.1:c.195+21C>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.195+21C>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.195+21C>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.195+21C>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.195+21C>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.195+21C>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.403+21C>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.195+21C>G
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6359
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 27511
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8351
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13338
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5906
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2995
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/18-29477779-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29477779
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 29477779
    reference: chr 18
allele count: 3
allele frequency: 2.47537006782514e-5
allele num: 121194
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153339
  ensembl protein: ENSP00000462550
  ensembl transcript: ENST00000580104
  gene symbol: TRAPPC8
  hgvsc: ENST00000580104.1:c.1566T>G
  hgvsp: ENST00000580104.1:c.1566T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29169
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000153339
  ensembl protein: ENSP00000283351
  ensembl transcript: ENST00000283351
  gene symbol: TRAPPC8
  hgvsc: ENST00000283351.4:c.1566T>G
  hgvsp: ENST00000283351.4:c.1566T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29169
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153339
  ensembl protein: ENSP00000463764
  ensembl transcript: ENST00000582539
  gene symbol: TRAPPC8
  hgvsc: ENST00000582539.1:c.1404T>G
  hgvsp: ENST00000582539.1:c.1404T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29169
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153339
  ensembl protein: ENSP00000464591
  ensembl transcript: ENST00000582513
  gene symbol: TRAPPC8
  hgvsc: ENST00000582513.1:c.1566T>G
  hgvsp: ENST00000582513.1:c.1566T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29169
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38221
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5736
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1572
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2113
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47592
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala522Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

18-29477779-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29477779
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 29477779
    reference: chr 18
allele count: 1
allele frequency: 8.251233559417133e-6
allele num: 121194
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000153339
  ensembl protein: ENSP00000283351
  ensembl transcript: ENST00000283351
  gene symbol: TRAPPC8
  hgvsc: ENST00000283351.4:c.1566T>A
  hgvsp: ENST00000283351.4:c.1566T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29169
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153339
  ensembl protein: ENSP00000463764
  ensembl transcript: ENST00000582539
  gene symbol: TRAPPC8
  hgvsc: ENST00000582539.1:c.1404T>A
  hgvsp: ENST00000582539.1:c.1404T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29169
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153339
  ensembl protein: ENSP00000464591
  ensembl transcript: ENST00000582513
  gene symbol: TRAPPC8
  hgvsc: ENST00000582513.1:c.1566T>A
  hgvsp: ENST00000582513.1:c.1566T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29169
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153339
  ensembl protein: ENSP00000462550
  ensembl transcript: ENST00000580104
  gene symbol: TRAPPC8
  hgvsc: ENST00000580104.1:c.1566T>A
  hgvsp: ENST00000580104.1:c.1566T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29169
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38221
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5736
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2113
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1572
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala522Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

18-29477791-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29477791
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 29477791
    reference: chr 18
allele count: 11
allele frequency: 9.073362258112411e-5
allele num: 121234
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153339
  ensembl protein: ENSP00000463764
  ensembl transcript: ENST00000582539
  gene symbol: TRAPPC8
  hgvsc: ENST00000582539.1:c.1392A>G
  hgvsp: ENST00000582539.1:c.1392A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29169
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000153339
  ensembl protein: ENSP00000283351
  ensembl transcript: ENST00000283351
  gene symbol: TRAPPC8
  hgvsc: ENST00000283351.4:c.1554A>G
  hgvsp: ENST00000283351.4:c.1554A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29169
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153339
  ensembl protein: ENSP00000462550
  ensembl transcript: ENST00000580104
  gene symbol: TRAPPC8
  hgvsc: ENST00000580104.1:c.1554A>G
  hgvsp: ENST00000580104.1:c.1554A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29169
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153339
  ensembl protein: ENSP00000464591
  ensembl transcript: ENST00000582513
  gene symbol: TRAPPC8
  hgvsc: ENST00000582513.1:c.1554A>G
  hgvsp: ENST00000582513.1:c.1554A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29169
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38206
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47675
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5734
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys518Lys
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

18-29477793-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29477793
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 29477793
    reference: chr 18
allele count: 2
allele frequency: 1.649647800194658e-5
allele num: 121238
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153339
  ensembl protein: ENSP00000283351
  ensembl transcript: ENST00000283351
  gene symbol: TRAPPC8
  hgvsc: ENST00000283351.4:c.1552A>G
  hgvsp: ENSP00000283351.4:p.Lys518Glu
  variant of: http://identifiers.org/hgnc/29169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153339
  ensembl protein: ENSP00000463764
  ensembl transcript: ENST00000582539
  gene symbol: TRAPPC8
  hgvsc: ENST00000582539.1:c.1390A>G
  hgvsp: ENSP00000463764.1:p.Lys464Glu
  variant of: http://identifiers.org/hgnc/29169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153339
  ensembl protein: ENSP00000462550
  ensembl transcript: ENST00000580104
  gene symbol: TRAPPC8
  hgvsc: ENST00000580104.1:c.1552A>G
  hgvsp: ENSP00000462550.1:p.Lys518Glu
  variant of: http://identifiers.org/hgnc/29169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153339
  ensembl protein: ENSP00000464591
  ensembl transcript: ENST00000582513
  gene symbol: TRAPPC8
  hgvsc: ENST00000582513.1:c.1552A>G
  hgvsp: ENSP00000464591.1:p.Lys518Glu
  variant of: http://identifiers.org/hgnc/29169
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5740
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2112
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Lys518Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff

18-29477794-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29477794
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 29477794
    reference: chr 18
allele count: 1
allele frequency: 8.248511143738554e-6
allele num: 121234
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153339
  ensembl protein: ENSP00000462550
  ensembl transcript: ENST00000580104
  gene symbol: TRAPPC8
  hgvsc: ENST00000580104.1:c.1551C>T
  hgvsp: ENST00000580104.1:c.1551C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29169
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153339
  ensembl protein: ENSP00000464591
  ensembl transcript: ENST00000582513
  gene symbol: TRAPPC8
  hgvsc: ENST00000582513.1:c.1551C>T
  hgvsp: ENST00000582513.1:c.1551C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29169
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153339
  ensembl protein: ENSP00000463764
  ensembl transcript: ENST00000582539
  gene symbol: TRAPPC8
  hgvsc: ENST00000582539.1:c.1389C>T
  hgvsp: ENST00000582539.1:c.1389C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29169
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000153339
  ensembl protein: ENSP00000283351
  ensembl transcript: ENST00000283351
  gene symbol: TRAPPC8
  hgvsc: ENST00000283351.4:c.1551C>T
  hgvsp: ENST00000283351.4:c.1551C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29169
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38183
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5740
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47657
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser517Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

18-29477808-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29477808
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 29477808
    reference: chr 18
allele count: 4
allele frequency: 3.298207424264912e-5
allele num: 121278
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153339
  ensembl protein: ENSP00000464591
  ensembl transcript: ENST00000582513
  gene symbol: TRAPPC8
  hgvsc: ENST00000582513.1:c.1537T>C
  hgvsp: ENST00000582513.1:c.1537T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29169
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153339
  ensembl protein: ENSP00000462550
  ensembl transcript: ENST00000580104
  gene symbol: TRAPPC8
  hgvsc: ENST00000580104.1:c.1537T>C
  hgvsp: ENST00000580104.1:c.1537T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29169
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153339
  ensembl protein: ENSP00000463764
  ensembl transcript: ENST00000582539
  gene symbol: TRAPPC8
  hgvsc: ENST00000582539.1:c.1375T>C
  hgvsp: ENST00000582539.1:c.1375T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29169
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000153339
  ensembl protein: ENSP00000283351
  ensembl transcript: ENST00000283351
  gene symbol: TRAPPC8
  hgvsc: ENST00000283351.4:c.1537T>C
  hgvsp: ENST00000283351.4:c.1537T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29169
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4571
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu513Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

16-31120769-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31120769
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31120769
    reference: chr 16
allele count: 1
allele frequency: 8.663859576163989e-6
allele num: 115422
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.195+30C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.195+30C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.195+30C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.195+30C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000454947
  ensembl transcript: ENST00000567676
  gene symbol: BCKDK
  hgvsc: ENST00000567676.1:c.195+30C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.403+30C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.195+30C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.195+30C>T
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8514
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13521
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27338
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3879
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2041
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32975
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3460
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5752
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

16-31120772-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31120772
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31120772
    reference: chr 16
allele count: 203
allele frequency: 1.755903468558083e-3
allele num: 115610
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000454947
  ensembl transcript: ENST00000567676
  gene symbol: BCKDK
  hgvsc: ENST00000567676.1:c.195+33G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.195+33G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.403+33G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.195+33G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.195+33G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.195+33G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.195+33G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.195+33G>A
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 3.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26818
  bin: 2.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 3.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 2362
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6189
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 8782
  bin: 1.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13779
  bin: 2.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2795
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5631
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3527
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 3
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD

16-31120774-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31120774
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31120774
    reference: chr 16
allele count: 1
allele frequency: 8.634982039237358e-6
allele num: 115808
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.195+35T>C
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.403+35T>C
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.195+35T>C
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.195+35T>C
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000454947
  ensembl transcript: ENST00000567676
  gene symbol: BCKDK
  hgvsc: ENST00000567676.1:c.195+35T>C
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.195+35T>C
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.195+35T>C
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.195+35T>C
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8691
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13877
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3538
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32149
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2775
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

16-31120775-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31120775
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31120775
    reference: chr 16
allele count: 1
allele frequency: 8.643640009680878e-6
allele num: 115692
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.195+36G>C
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000454947
  ensembl transcript: ENST00000567676
  gene symbol: BCKDK
  hgvsc: ENST00000567676.1:c.195+36G>C
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.403+36G>C
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.195+36G>C
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.195+36G>C
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.195+36G>C
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.195+36G>C
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.195+36G>C
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8770
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3571
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2783
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3311
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-31120780-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31120780
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31120780
    reference: chr 16
allele count: 4
allele frequency: 3.463863246679021e-5
allele num: 115478
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.195+41C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.195+41C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.403+41C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000454947
  ensembl transcript: ENST00000567676
  gene symbol: BCKDK
  hgvsc: ENST00000567676.1:c.195+41C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.195+41C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.195+41C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.195+41C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.195+41C>T
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8622
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6026
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26297
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14401
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1886
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30366
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2726
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

16-31120781-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31120781
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31120781
    reference: chr 16
allele count: 1
allele frequency: 8.65830851284893e-6
allele num: 115496
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.195+42G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.195+42G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000454947
  ensembl transcript: ENST00000567676
  gene symbol: BCKDK
  hgvsc: ENST00000567676.1:c.195+42G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.403+42G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.195+42G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.195+42G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.195+42G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.195+42G>A
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8410
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5927
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31164
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5258
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3463
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3270
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

16-31120785-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31120785
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31120785
    reference: chr 16
allele count: 1
allele frequency: 8.620689655172414e-6
allele num: 116000
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.195+46G>C
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.195+46G>C
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.195+46G>C
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.403+46G>C
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.195+46G>C
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000454947
  ensembl transcript: ENST00000567676
  gene symbol: BCKDK
  hgvsc: ENST00000567676.1:c.195+46G>C
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.195+46G>C
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.195+46G>C
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5565
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7362
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4972
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2473
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3115
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4164
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-31120788-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31120788
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31120788
    reference: chr 16
allele count: 1
allele frequency: 8.611780916293489e-6
allele num: 116120
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.196-44A>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.196-44A>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.196-44A>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.196-44A>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000454947
  ensembl transcript: ENST00000567676
  gene symbol: BCKDK
  hgvsc: ENST00000567676.1:c.196-44A>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.404-44A>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.196-44A>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.196-44A>T
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28264
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5307
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6677
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36242
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4673
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2886
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2323
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP

16-31120792-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31120792
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31120792
    reference: chr 16
allele count: 2
allele frequency: 1.727473742399115e-5
allele num: 115776
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.404-40T>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.196-40T>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.196-40T>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000454947
  ensembl transcript: ENST00000567676
  gene symbol: BCKDK
  hgvsc: ENST00000567676.1:c.196-40T>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.196-40T>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.196-40T>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.196-40T>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.196-40T>G
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5931
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28489
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1728
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2110
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4248
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2289
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  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: T
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

16-31120795-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31120795
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31120796
    reference: chr 16
allele count: 14
allele frequency: 1.195498095742319e-4
allele num: 117106
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.196-32dupG
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.196-32dupG
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.404-32dupG
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000454947
  ensembl transcript: ENST00000567676
  gene symbol: BCKDK
  hgvsc: ENST00000567676.1:c.196-32dupG
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.196-32dupG
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.196-32dupG
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.196-32dupG
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.196-32dupG
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29556
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16685
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4499
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4447
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2213
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4965
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

16-31120798-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31120798
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31120798
    reference: chr 16
allele count: 1
allele frequency: 8.523695874531197e-6
allele num: 117320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.196-34G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.196-34G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.196-34G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.196-34G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.404-34G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000454947
  ensembl transcript: ENST00000567676
  gene symbol: BCKDK
  hgvsc: ENST00000567676.1:c.196-34G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.196-34G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.196-34G>A
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3755
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30353
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3996
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3585
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5057
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1478
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

16-31120817-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31120817
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31120816
    reference: chr 16
allele count: 1
allele frequency: 8.401102224611869e-6
allele num: 119032
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.196-14delC
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000454947
  ensembl transcript: ENST00000567676
  gene symbol: BCKDK
  hgvsc: ENST00000567676.1:c.196-14delC
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.196-14delC
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.196-14delC
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.404-14delC
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.196-14delC
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.196-14delC
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.196-14delC
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19447
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46527
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: TC
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum

16-31120819-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31120819
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31120819
    reference: chr 16
allele count: 7
allele frequency: 5.873764411700539e-5
allele num: 119174
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.196-13T>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000454947
  ensembl transcript: ENST00000567676
  gene symbol: BCKDK
  hgvsc: ENST00000567676.1:c.196-13T>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.196-13T>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.196-13T>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.196-13T>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.404-13T>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.196-13T>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.196-13T>A
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19617
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5760
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

16-31120822-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31120822
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31120822
    reference: chr 16
allele count: 1
allele frequency: 8.38335401227323e-6
allele num: 119284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.196-10C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000454947
  ensembl transcript: ENST00000567676
  gene symbol: BCKDK
  hgvsc: ENST00000567676.1:c.196-10C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.196-10C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.196-10C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.196-10C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.196-10C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.196-10C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.404-10C>T
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5796
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

16-31120825-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31120825
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31120825
    reference: chr 16
allele count: 1
allele frequency: 8.373666493610892e-6
allele num: 119422
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.196-7T>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.196-7T>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000454947
  ensembl transcript: ENST00000567676
  gene symbol: BCKDK
  hgvsc: ENST00000567676.1:c.196-7T>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.404-7T>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.196-7T>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.196-7T>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.196-7T>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.196-7T>G
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20067
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33448
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5880
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 7.25e1
  variant carriers: 0
hgvs: c.196-7T>G
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

16-31120832-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31120832
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31120832
    reference: chr 16
allele count: 3
allele frequency: 2.505302891119536e-5
allele num: 119746
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000454947
  ensembl transcript: ENST00000567676
  gene symbol: BCKDK
  hgvsc: ENST00000567676.1:c.196C>T
  hgvsp: ENSP00000454947.1:p.Pro66Ser
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.196C>T
  hgvsp: ENSP00000456479.1:p.Pro66Ser
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.196C>T
  hgvsp: ENSP00000219794.6:p.Pro66Ser
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.196C>T
  hgvsp: ENSP00000287507.3:p.Pro66Ser
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.404C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.196C>T
  hgvsp: ENSP00000378405.1:p.Pro66Ser
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.196C>T
  hgvsp: ENSP00000378404.3:p.Pro66Ser
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.196C>T
  hgvsp: ENSP00000457226.1:p.Pro66Ser
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33825
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro66Ser
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

16-31120834-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31120834
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31120834
    reference: chr 16
allele count: 1
allele frequency: 8.348639171814994e-6
allele num: 119780
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000454947
  ensembl transcript: ENST00000567676
  gene symbol: BCKDK
  hgvsc: ENST00000567676.1:c.198C>T
  hgvsp: ENST00000567676.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.406C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.198C>T
  hgvsp: ENST00000484226.2:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.198C>T
  hgvsp: ENST00000567530.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.198C>T
  hgvsp: ENST00000394951.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.198C>T
  hgvsp: ENST00000394950.3:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.198C>T
  hgvsp: ENST00000219794.6:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.198C>T
  hgvsp: ENST00000287507.3:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20527
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33770
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
hgvs: c.198C>T
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

16-31120841-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31120841
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31120841
    reference: chr 16
allele count: 2
allele frequency: 1.666222340709144e-5
allele num: 120032
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.205C>T
  hgvsp: ENSP00000219794.6:p.Arg69Cys
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.205C>T
  hgvsp: ENSP00000378405.1:p.Arg69Cys
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.205C>T
  hgvsp: ENSP00000378404.3:p.Arg69Cys
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000454947
  ensembl transcript: ENST00000567676
  gene symbol: BCKDK
  hgvsc: ENST00000567676.1:c.205C>T
  hgvsp: ENSP00000454947.1:p.Arg69Cys
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.413C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.205C>T
  hgvsp: ENSP00000457226.1:p.Arg69Cys
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.205C>T
  hgvsp: ENSP00000287507.3:p.Arg69Cys
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.205C>T
  hgvsp: ENSP00000456479.1:p.Arg69Cys
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20839
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1507
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6075
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg69Cys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

16-31120843-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31120843
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31120843
    reference: chr 16
allele count: 2
allele frequency: 1.664863065012903e-5
allele num: 120130
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.207C>G
  hgvsp: ENST00000394950.3:c.207C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000454947
  ensembl transcript: ENST00000567676
  gene symbol: BCKDK
  hgvsc: ENST00000567676.1:c.207C>G
  hgvsp: ENST00000567676.1:c.207C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.207C>G
  hgvsp: ENST00000484226.2:c.207C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.207C>G
  hgvsp: ENST00000567530.1:c.207C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.207C>G
  hgvsp: ENST00000219794.6:c.207C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.207C>G
  hgvsp: ENST00000287507.3:c.207C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.415C>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.207C>G
  hgvsp: ENST00000394951.1:c.207C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33694
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg69Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

16-31120855-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31120855
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31120855
    reference: chr 16
allele count: 6
allele frequency: 4.982726547967048e-5
allele num: 120416
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000454947
  ensembl transcript: ENST00000567676
  gene symbol: BCKDK
  hgvsc: ENST00000567676.1:c.219C>G
  hgvsp: ENST00000567676.1:c.219C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.219C>G
  hgvsp: ENST00000394951.1:c.219C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.219C>G
  hgvsp: ENST00000567530.1:c.219C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.219C>G
  hgvsp: ENST00000394950.3:c.219C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.427C>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.219C>G
  hgvsp: ENST00000287507.3:c.219C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.219C>G
  hgvsp: ENST00000484226.2:c.219C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.219C>G
  hgvsp: ENST00000219794.6:c.219C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 21301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33639
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr73Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

16-31120864-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31120864
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31120864
    reference: chr 16
allele count: 1
allele frequency: 8.298892927683448e-6
allele num: 120498
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.228C>G
  hgvsp: ENST00000394951.1:c.228C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.228C>G
  hgvsp: ENST00000567530.1:c.228C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.228C>G
  hgvsp: ENST00000287507.3:c.228C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.436C>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.228C>G
  hgvsp: ENST00000484226.2:c.228C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.228C>G
  hgvsp: ENST00000219794.6:c.228C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000454947
  ensembl transcript: ENST00000567676
  gene symbol: BCKDK
  hgvsc: ENST00000567676.1:c.228C>G
  hgvsp: ENST00000567676.1:c.228C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.228C>G
  hgvsp: ENST00000394950.3:c.228C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33519
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu76Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

16-31120869-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31120869
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31120869
    reference: chr 16
allele count: 1
allele frequency: 8.295175525914129e-6
allele num: 120552
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.233C>T
  hgvsp: ENSP00000378405.1:p.Ala78Val
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.233C>T
  hgvsp: ENSP00000456479.1:p.Ala78Val
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.233C>T
  hgvsp: ENSP00000457226.1:p.Ala78Val
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000454947
  ensembl transcript: ENST00000567676
  gene symbol: BCKDK
  hgvsc: ENST00000567676.1:c.233C>T
  hgvsp: ENSP00000454947.1:p.Ala78Val
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.233C>T
  hgvsp: ENSP00000219794.6:p.Ala78Val
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.233C>T
  hgvsp: ENSP00000287507.3:p.Ala78Val
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.233C>T
  hgvsp: ENSP00000378404.3:p.Ala78Val
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.441C>T
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala78Val
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

16-31120870-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31120870
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31120870
    reference: chr 16
allele count: 1
allele frequency: 8.294349888855711e-6
allele num: 120564
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.234T>C
  hgvsp: ENST00000394950.3:c.234T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.234T>C
  hgvsp: ENST00000394951.1:c.234T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.234T>C
  hgvsp: ENST00000219794.6:c.234T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000454947
  ensembl transcript: ENST00000567676
  gene symbol: BCKDK
  hgvsc: ENST00000567676.1:c.234T>C
  hgvsp: ENST00000567676.1:c.234T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.442T>C
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.234T>C
  hgvsp: ENST00000287507.3:c.234T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.234T>C
  hgvsp: ENST00000567530.1:c.234T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.234T>C
  hgvsp: ENST00000484226.2:c.234T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6250
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala78Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

16-31120874-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31120874
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31120874
    reference: chr 16
allele count: 1
allele frequency: 8.294074713025015e-6
allele num: 120568
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000454947
  ensembl transcript: ENST00000567676
  gene symbol: BCKDK
  hgvsc: ENST00000567676.1:c.238C>G
  hgvsp: ENSP00000454947.1:p.Arg80Gly
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.238C>G
  hgvsp: ENSP00000456479.1:p.Arg80Gly
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.238C>G
  hgvsp: ENSP00000287507.3:p.Arg80Gly
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.446C>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.238C>G
  hgvsp: ENSP00000378404.3:p.Arg80Gly
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.238C>G
  hgvsp: ENSP00000457226.1:p.Arg80Gly
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.238C>G
  hgvsp: ENSP00000378405.1:p.Arg80Gly
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.238C>G
  hgvsp: ENSP00000219794.6:p.Arg80Gly
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4082
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg80Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

16-31120877-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31120877
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31120877
    reference: chr 16
allele count: 6
allele frequency: 4.974876871797423e-5
allele num: 120606
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.241T>G
  hgvsp: ENSP00000287507.3:p.Ser81Ala
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.241T>G
  hgvsp: ENSP00000219794.6:p.Ser81Ala
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.449T>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.241T>G
  hgvsp: ENSP00000378405.1:p.Ser81Ala
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.241T>G
  hgvsp: ENSP00000456479.1:p.Ser81Ala
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000454947
  ensembl transcript: ENST00000567676
  gene symbol: BCKDK
  hgvsc: ENST00000567676.1:c.241T>G
  hgvsp: ENSP00000454947.1:p.Ser81Ala
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.241T>G
  hgvsp: ENSP00000378404.3:p.Ser81Ala
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.241T>G
  hgvsp: ENSP00000457226.1:p.Ser81Ala
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21756
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1560
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6254
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser81Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

16-31120885-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31120885
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31120885
    reference: chr 16
allele count: 42
allele frequency: 3.481374645645795e-4
allele num: 120642
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.249C>T
  hgvsp: ENST00000394951.1:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.249C>T
  hgvsp: ENST00000484226.2:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000454947
  ensembl transcript: ENST00000567676
  gene symbol: BCKDK
  hgvsc: ENST00000567676.1:c.249C>T
  hgvsp: ENST00000567676.1:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.249C>T
  hgvsp: ENST00000287507.3:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.249C>T
  hgvsp: ENST00000567530.1:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.249C>T
  hgvsp: ENST00000219794.6:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.249C>T
  hgvsp: ENST00000394950.3:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.457C>T
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33012
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21838
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4099
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 49215
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp83Asp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

16-31120898-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31120898
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31120898
    reference: chr 16
allele count: 7
allele frequency: 5.8002717841636e-5
allele num: 120684
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.262C>T
  hgvsp: ENST00000287507.3:c.262C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.262C>T
  hgvsp: ENST00000567530.1:c.262C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.262C>T
  hgvsp: ENST00000484226.2:c.262C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.262C>T
  hgvsp: ENST00000394950.3:c.262C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.262C>T
  hgvsp: ENST00000219794.6:c.262C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.470C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.262C>T
  hgvsp: ENST00000394951.1:c.262C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000454947
  ensembl transcript: ENST00000567676
  gene symbol: BCKDK
  hgvsc: ENST00000567676.1:c.262C>T
  hgvsp: ENST00000567676.1:c.262C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22054
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49223
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.75e1
  variant carriers: 0
hgvs: c.262C>T
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS

16-31120909-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31120909
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31120909
    reference: chr 16
allele count: 1
allele frequency: 8.285278716776033e-6
allele num: 120696
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.264+9C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.264+9C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.264+9C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.264+9C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.472+9C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.264+9C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.264+9C>T
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6251
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

16-31120912-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31120912
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31120912
    reference: chr 16
allele count: 1
allele frequency: 8.285965232089886e-6
allele num: 120686
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.264+12G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.264+12G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.264+12G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.264+12G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.472+12G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.264+12G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.264+12G>A
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4170
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6252
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

16-31120913-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31120913
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31120913
    reference: chr 16
allele count: 1
allele frequency: 8.285416010737898e-6
allele num: 120694
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.264+13C>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.264+13C>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.472+13C>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.264+13C>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.264+13C>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.264+13C>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.264+13C>G
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6272
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

16-31120914-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31120914
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31120914
    reference: chr 16
allele count: 1
allele frequency: 8.285141427364165e-6
allele num: 120698
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.264+14C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.264+14C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.264+14C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.264+14C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.264+14C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.472+14C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.264+14C>T
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48071
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-31120919-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31120919
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31120919
    reference: chr 16
allele count: 1
allele frequency: 8.285278716776033e-6
allele num: 120696
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.264+19A>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.264+19A>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.264+19A>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.264+19A>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.472+19A>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.264+19A>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.264+19A>G
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22310
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4164
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

16-31120925-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31120925
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31120925
    reference: chr 16
allele count: 1
allele frequency: 8.287063893262618e-6
allele num: 120670
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.472+25C>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.264+25C>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.264+25C>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.264+25C>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.264+25C>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.264+25C>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.264+25C>G
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4170
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31832
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48243
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ

16-31120927-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31120927
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31120927
    reference: chr 16
allele count: 1
allele frequency: 8.289399515899069e-6
allele num: 120636
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.264+27C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.264+27C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.264+27C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.264+27C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.264+27C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.264+27C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.472+27C>T
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31814
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48544
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

16-31120946-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31120946
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31120946
    reference: chr 16
allele count: 1
allele frequency: 8.28363154406892e-6
allele num: 120720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.264+46C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.264+46C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.264+46C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.472+46C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.264+46C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.264+46C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.264+46C>T
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22818
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1485
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49117
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

16-31120967-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31120967
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31120967
    reference: chr 16
allele count: 3
allele frequency: 2.483320364882539e-5
allele num: 120806
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.473-27C>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.265-27C>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.265-27C>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.265-27C>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.265-27C>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.265-27C>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.265-27C>G
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49817
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

16-31120974-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31120974
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31120974
    reference: chr 16
allele count: 1
allele frequency: 8.275679433281473e-6
allele num: 120836
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.473-20C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.265-20C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.265-20C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.265-20C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.265-20C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.265-20C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.265-20C>T
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31485
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1481
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum

16-31121001-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31121001
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31121001
    reference: chr 16
allele count: 1
allele frequency: 8.271709100534353e-6
allele num: 120894
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.272C>G
  hgvsp: ENSP00000457226.1:p.Ala91Gly
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.272C>G
  hgvsp: ENSP00000378404.3:p.Ala91Gly
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.272C>G
  hgvsp: ENSP00000378405.1:p.Ala91Gly
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.272C>G
  hgvsp: ENSP00000219794.6:p.Ala91Gly
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.272C>G
  hgvsp: ENSP00000287507.3:p.Ala91Gly
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.480C>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.272C>G
  hgvsp: ENSP00000456479.1:p.Ala91Gly
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23614
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1480
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala91Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP

16-31121001-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31121001
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31121001
    reference: chr 16
allele count: 4
allele frequency: 3.308683640213741e-5
allele num: 120894
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.272C>T
  hgvsp: ENSP00000219794.6:p.Ala91Val
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.272C>T
  hgvsp: ENSP00000287507.3:p.Ala91Val
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.272C>T
  hgvsp: ENSP00000456479.1:p.Ala91Val
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.272C>T
  hgvsp: ENSP00000378404.3:p.Ala91Val
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.272C>T
  hgvsp: ENSP00000457226.1:p.Ala91Val
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.272C>T
  hgvsp: ENSP00000378405.1:p.Ala91Val
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.480C>T
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23614
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50355
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala91Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

16-31121002-TCGG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31121002
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31120999
    reference: chr 16
allele count: 1
allele frequency: 8.271845945141119e-6
allele num: 120892
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.274_276delCGG
  hgvsp: ENSP00000378405.1:p.Arg92del
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.274_276delCGG
  hgvsp: ENSP00000456479.1:p.Arg92del
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.274_276delCGG
  hgvsp: ENSP00000457226.1:p.Arg92del
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.274_276delCGG
  hgvsp: ENSP00000219794.6:p.Arg92del
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.274_276delCGG
  hgvsp: ENSP00000287507.3:p.Arg92del
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.274_276delCGG
  hgvsp: ENSP00000378404.3:p.Arg92del
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.482_484delCGG
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 23625
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31505
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6178
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg92del
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: TCGG
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

16-31121004-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31121004
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31121004
    reference: chr 16
allele count: 3
allele frequency: 2.48184119525472e-5
allele num: 120878
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.275G>A
  hgvsp: ENSP00000219794.6:p.Arg92Gln
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.275G>A
  hgvsp: ENSP00000457226.1:p.Arg92Gln
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.483G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.275G>A
  hgvsp: ENSP00000378405.1:p.Arg92Gln
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.275G>A
  hgvsp: ENSP00000456479.1:p.Arg92Gln
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.275G>A
  hgvsp: ENSP00000287507.3:p.Arg92Gln
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.275G>A
  hgvsp: ENSP00000378404.3:p.Arg92Gln
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4408
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50340
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg92Gln
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP

16-31121006-T-TCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31121006
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31121008
    reference: chr 16
allele count: 1
allele frequency: 8.271709100534353e-6
allele num: 120894
alternate allele: TCC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.277_278insCC
  hgvsp: ENSP00000378404.3:p.Tyr93SerfsTer9
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.277_278insCC
  hgvsp: ENSP00000378405.1:p.Tyr93SerfsTer9
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.485_486insCC
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.277_278insCC
  hgvsp: ENSP00000287507.3:p.Tyr93SerfsTer9
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.277_278insCC
  hgvsp: ENSP00000456479.1:p.Tyr93SerfsTer9
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.277_278insCC
  hgvsp: ENSP00000219794.6:p.Tyr93SerfsTer9
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.277_278insCC
  hgvsp: ENSP00000457226.1:p.Tyr93SerfsTer9
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31496
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50372
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Tyr93SerfsTer9
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ

16-31121008-C-CTCCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31121008
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31121012
    reference: chr 16
allele count: 1
allele frequency: 8.271709100534353e-6
allele num: 120894
alternate allele: CTCCA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.279_280insTCCA
  hgvsp: ENSP00000456479.1:p.Leu94SerfsTer35
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.279_280insTCCA
  hgvsp: ENSP00000287507.3:p.Leu94SerfsTer35
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.279_280insTCCA
  hgvsp: ENSP00000457226.1:p.Leu94SerfsTer60
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.279_280insTCCA
  hgvsp: ENSP00000378405.1:p.Leu94SerfsTer35
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.279_280insTCCA
  hgvsp: ENSP00000219794.6:p.Leu94SerfsTer35
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.279_280insTCCA
  hgvsp: ENSP00000378404.3:p.Leu94SerfsTer35
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.487_488insTCCA
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23638
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6170
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu94SerfsTer35
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

16-31121017-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31121017
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31121017
    reference: chr 16
allele count: 1
allele frequency: 8.275268532463878e-6
allele num: 120842
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.288A>G
  hgvsp: ENST00000484226.2:c.288A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.288A>G
  hgvsp: ENST00000394950.3:c.288A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.288A>G
  hgvsp: ENST00000287507.3:c.288A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.288A>G
  hgvsp: ENST00000219794.6:c.288A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.496A>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.288A>G
  hgvsp: ENST00000567530.1:c.288A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.288A>G
  hgvsp: ENST00000394951.1:c.288A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31426
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50327
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1480
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln96Gln
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

16-31121025-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31121025
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31121025
    reference: chr 16
allele count: 4
allele frequency: 3.311587243765937e-5
allele num: 120788
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.296C>T
  hgvsp: ENSP00000456479.1:p.Pro99Leu
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.296C>T
  hgvsp: ENSP00000378404.3:p.Pro99Leu
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.296C>T
  hgvsp: ENSP00000287507.3:p.Pro99Leu
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.296C>T
  hgvsp: ENSP00000378405.1:p.Pro99Leu
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.296C>T
  hgvsp: ENSP00000457226.1:p.Pro99Leu
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.504C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.296C>T
  hgvsp: ENSP00000219794.6:p.Pro99Leu
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro99Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

16-31121034-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31121034
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31121034
    reference: chr 16
allele count: 7
allele frequency: 5.79892637020346e-5
allele num: 120712
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.305T>C
  hgvsp: ENSP00000457226.1:p.Ile102Thr
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.305T>C
  hgvsp: ENSP00000378405.1:p.Ile102Thr
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.305T>C
  hgvsp: ENSP00000219794.6:p.Ile102Thr
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.513T>C
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.305T>C
  hgvsp: ENSP00000287507.3:p.Ile102Thr
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.305T>C
  hgvsp: ENSP00000456479.1:p.Ile102Thr
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.305T>C
  hgvsp: ENSP00000378404.3:p.Ile102Thr
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4418
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50263
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6163
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile102Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS

16-31121037-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31121037
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31121037
    reference: chr 16
allele count: 1
allele frequency: 8.286377195889957e-6
allele num: 120680
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.308C>T
  hgvsp: ENSP00000219794.6:p.Ala103Val
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.308C>T
  hgvsp: ENSP00000457226.1:p.Ala103Val
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.308C>T
  hgvsp: ENSP00000378405.1:p.Ala103Val
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.308C>T
  hgvsp: ENSP00000456479.1:p.Ala103Val
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.516C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.308C>T
  hgvsp: ENSP00000378404.3:p.Ala103Val
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.308C>T
  hgvsp: ENSP00000287507.3:p.Ala103Val
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6164
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala103Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

16-31121058-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31121058
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31121058
    reference: chr 16
allele count: 1
allele frequency: 8.309098462816784e-6
allele num: 120350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.329G>A
  hgvsp: ENSP00000287507.3:p.Arg110His
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.329G>A
  hgvsp: ENSP00000219794.6:p.Arg110His
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.329G>A
  hgvsp: ENSP00000456479.1:p.Arg110His
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.329G>A
  hgvsp: ENSP00000457226.1:p.Arg110His
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.329G>A
  hgvsp: ENSP00000378405.1:p.Arg110His
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.329G>A
  hgvsp: ENSP00000378404.3:p.Arg110His
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.537G>A
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23593
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31090
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6129
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg110His
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

16-31121075-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31121075
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31121075
    reference: chr 16
allele count: 1
allele frequency: 8.326533331112925e-6
allele num: 120098
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.346A>G
  hgvsp: ENSP00000378405.1:p.Ile116Val
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.346A>G
  hgvsp: ENSP00000456479.1:p.Ile116Val
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.346A>G
  hgvsp: ENSP00000457226.1:p.Ile116Val
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.346A>G
  hgvsp: ENSP00000219794.6:p.Ile116Val
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.346A>G
  hgvsp: ENSP00000378404.3:p.Ile116Val
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.346A>G
  hgvsp: ENSP00000287507.3:p.Ile116Val
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.554A>G
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6126
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile116Val
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff

16-31121076-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31121076
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31121076
    reference: chr 16
allele count: 1
allele frequency: 8.327781479013991e-6
allele num: 120080
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.347T>A
  hgvsp: ENSP00000456479.1:p.Ile116Asn
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.347T>A
  hgvsp: ENSP00000287507.3:p.Ile116Asn
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.347T>A
  hgvsp: ENSP00000457226.1:p.Ile116Asn
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.555T>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.347T>A
  hgvsp: ENSP00000378404.3:p.Ile116Asn
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.347T>A
  hgvsp: ENSP00000219794.6:p.Ile116Asn
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.347T>A
  hgvsp: ENSP00000378405.1:p.Ile116Asn
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6124
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile116Asn
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

16-31121096-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31121096
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31121096
    reference: chr 16
allele count: 2
allele frequency: 1.671122994652406e-5
allele num: 119680
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.367C>T
  hgvsp: ENST00000287507.3:c.367C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.367C>T
  hgvsp: ENST00000567530.1:c.367C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.367C>T
  hgvsp: ENST00000484226.2:c.367C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.367C>T
  hgvsp: ENST00000394951.1:c.367C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.367C>T
  hgvsp: ENST00000394950.3:c.367C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.367C>T
  hgvsp: ENST00000219794.6:c.367C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.575C>T
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30470
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6046
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu123Leu
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

16-31121101-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31121101
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31121101
    reference: chr 16
allele count: 1
allele frequency: 8.369601606963508e-6
allele num: 119480
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.372C>G
  hgvsp: ENSP00000287507.3:p.His124Gln
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.372C>G
  hgvsp: ENSP00000456479.1:p.His124Gln
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.372C>G
  hgvsp: ENSP00000457226.1:p.His124Gln
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.372C>G
  hgvsp: ENSP00000378405.1:p.His124Gln
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.372C>G
  hgvsp: ENSP00000219794.6:p.His124Gln
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.372C>G
  hgvsp: ENSP00000378404.3:p.His124Gln
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.580C>G
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30259
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4392
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6004
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48777
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His124Gln
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

16-31121102-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31121102
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31121102
    reference: chr 16
allele count: 9
allele frequency: 7.535795026375282e-5
allele num: 119430
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.581G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.373G>A
  hgvsp: ENSP00000457226.1:p.Val125Met
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.373G>A
  hgvsp: ENSP00000378405.1:p.Val125Met
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.373G>A
  hgvsp: ENSP00000219794.6:p.Val125Met
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.373G>A
  hgvsp: ENSP00000287507.3:p.Val125Met
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.373G>A
  hgvsp: ENSP00000378404.3:p.Val125Met
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.373G>A
  hgvsp: ENSP00000456479.1:p.Val125Met
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 48730
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val125Met
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

16-31121111-TAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31121111
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31121109
    reference: chr 16
allele count: 3
allele frequency: 2.521559332291089e-5
allele num: 118974
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.375+12_375+13delAG
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.375+12_375+13delAG
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.375+12_375+13delAG
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.375+12_375+13delAG
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.375+12_375+13delAG
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.375+12_375+13delAG
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.595_596delAG
  variant of: http://identifiers.org/hgnc/16902
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47829
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5878
  bin: 6.75e1
  variant carriers: 0
hgvs: c.375+12_375+13delAG
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
reference allele: TAG
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

16-31121114-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31121114
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31121114
    reference: chr 16
allele count: 1
allele frequency: 8.427723840345199e-6
allele num: 118656
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.375+10A>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.375+10A>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.375+10A>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.375+10A>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.593A>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.375+10A>G
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.375+10A>G
  variant of: http://identifiers.org/hgnc/16902
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4290
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22419
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28966
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2428
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46598
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

16-31121117-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31121117
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31121117
    reference: chr 16
allele count: 1
allele frequency: 8.43497477942541e-6
allele num: 118554
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.596G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.375+13G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.375+13G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.375+13G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.375+13G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.375+13G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.375+13G>A
  variant of: http://identifiers.org/hgnc/16902
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22330
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2574
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

16-31121118-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31121118
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31121118
    reference: chr 16
allele count: 1
allele frequency: 8.441810599537389e-6
allele num: 118458
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.375+14G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.375+14G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.375+14G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.597G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.375+14G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.375+14G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.375+14G>A
  variant of: http://identifiers.org/hgnc/16902
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

16-31121120-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31121120
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31121120
    reference: chr 16
allele count: 1
allele frequency: 8.465823470648991e-6
allele num: 118122
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.375+16C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.375+16C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.375+16C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.599C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.375+16C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.375+16C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.375+16C>T
  variant of: http://identifiers.org/hgnc/16902
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3633
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44615
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3385
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum

16-31121131-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31121131
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31121131
    reference: chr 16
allele count: 1
allele frequency: 8.549346829902196e-6
allele num: 116968
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.375+27C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.375+27C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.375+27C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.610C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.375+27C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.375+27C>T
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.375+27C>T
  variant of: http://identifiers.org/hgnc/16902
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4945
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2225
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3026
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2022
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5706
  bin: 2.25e1
  variant carriers: 0
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: C
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

16-31121132-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31121132
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31121132
    reference: chr 16
allele count: 1
allele frequency: 8.56179044161715e-6
allele num: 116798
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.375+28G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.375+28G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.375+28G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.611G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.375+28G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.375+28G>A
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.375+28G>A
  variant of: http://identifiers.org/hgnc/16902
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6096
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-31121133-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31121133
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31121133
    reference: chr 16
allele count: 3
allele frequency: 2.567833604382436e-5
allele num: 116830
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000457226
  ensembl transcript: ENST00000484226
  gene symbol: BCKDK
  hgvsc: ENST00000484226.2:c.375+29G>C
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000456479
  ensembl transcript: ENST00000567530
  gene symbol: BCKDK
  hgvsc: ENST00000567530.1:c.375+29G>C
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000287507
  ensembl transcript: ENST00000287507
  gene symbol: BCKDK
  hgvsc: ENST00000287507.3:c.375+29G>C
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378405
  ensembl transcript: ENST00000394951
  gene symbol: BCKDK
  hgvsc: ENST00000394951.1:c.375+29G>C
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000219794
  ensembl transcript: ENST00000219794
  gene symbol: BCKDK
  hgvsc: ENST00000219794.6:c.375+29G>C
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103507
  ensembl protein: ENSP00000378404
  ensembl transcript: ENST00000394950
  gene symbol: BCKDK
  hgvsc: ENST00000394950.3:c.375+29G>C
  variant of: http://identifiers.org/hgnc/16902
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103507
  ensembl transcript: ENST00000566568
  gene symbol: BCKDK
  hgvsc: ENST00000566568.1:n.612G>C
  variant of: http://identifiers.org/hgnc/16902
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22858
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 43459
bin: 6.25e1
variant carriers: 7

GenotypeQuality
all individuals: 1286
bin: 7.75e1
variant carriers: 5

GenotypeQuality
all individuals: 422
bin: 9.25e1
variant carriers: 6

GenotypeQuality
all individuals: 363
bin: 8.75e1
variant carriers: 4

South Asian
type: Population
allele count: 563
allele frequency: 3.415847591311734e-2
allele num: 16482
num of homozygotes: 14

Other
type: Population
allele count: 40
allele frequency: 4.424778761061947e-2
allele num: 904
num of homozygotes: 1

Latino
type: Population
allele count: 297
allele frequency: 2.580364900086881e-2
allele num: 11510
num of homozygotes: 6

European (Finnish)
type: Population
allele count: 604
allele frequency: 9.148742805210543e-2
allele num: 6602
num of homozygotes: 27

African
type: Population
allele count: 112
allele frequency: 1.077337437475952e-2
allele num: 10396
num of homozygotes: 0

East Asian
type: Population
allele count: 343
allele frequency: 3.9689886600324e-2
allele num: 8642
num of homozygotes: 4

European (Non-Finnish)
type: Population
allele count: 4516
allele frequency: 6.78424420875522e-2
allele num: 66566
num of homozygotes: 173

BaseQRankSum
type: SiteQuality
SIO_000300: -1.854e0

FS
type: SiteQuality
SIO_000300: 6.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.09e0

MQ
type: SiteQuality
SIO_000300: 5.995e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.84e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-2

DP
type: SiteQuality
SIO_000300: 1.711178e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.45e-1

QD
type: SiteQuality
SIO_000300: 1.345e1

GenotypeQuality
all individuals: 2526
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3905
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36016
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1424
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2460
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 632
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 917
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.167263167896621e-5
allele num: 63146
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6024
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11228
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.368e0

DP
type: SiteQuality
SIO_000300: 1.276513e6

MQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.26e0

VQSLOD
type: SiteQuality
SIO_000300: 9.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.15e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.12e-1

QD
type: SiteQuality
SIO_000300: 1.511e1

GenotypeQuality
all individuals: 3118
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3908
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6028
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35036
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1559
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1134
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1385
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.181474480151229e-4
allele num: 8464
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63212
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15660
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6032
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11242
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -8.88e-1

FS
type: SiteQuality
SIO_000300: 4.048e0

MQ
type: SiteQuality
SIO_000300: 5.707e1

DP
type: SiteQuality
SIO_000300: 1.274142e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.089e0

QD
type: SiteQuality
SIO_000300: 2.804e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.9e-2

GenotypeQuality
all individuals: 2720
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34066
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3274
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 679
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5925
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1794
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1265
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6046
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63172
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11240
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 5.103342689461597e-4
allele num: 15676
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.32e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.15e-1

QD
type: SiteQuality
SIO_000300: 1.221e1

FS
type: SiteQuality
SIO_000300: 5.33e0

DP
type: SiteQuality
SIO_000300: 1.275199e6

VQSLOD
type: SiteQuality
SIO_000300: 8.83e-1

GenotypeQuality
all individuals: 72
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1013
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3819
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1739
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2767
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1926
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3377
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 9.75e1
variant carriers: 24

GenotypeQuality
all individuals: 32907
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 648
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 23
allele frequency: 2.39983305509182e-3
allele num: 9584
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.91583452211127e-5
allele num: 11216
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6080
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8480
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15718
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: 0
allele frequency: 0.0e0
allele num: 63188
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.58e-1

DP
type: SiteQuality
SIO_000300: 1.275048e6

FS
type: SiteQuality
SIO_000300: 1.129e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.34e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 1.47e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.7e-2

GenotypeQuality
all individuals: 415
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1457
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001560811622043e-5
allele num: 66632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.682062858135092e-5
allele num: 11518
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.52712e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.299999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.32e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.44e1

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

FS
type: SiteQuality
SIO_000300: 4.212e0

MQRankSum
type: SiteQuality
SIO_000300: -1.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.68e-1

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1457
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47592
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500780405811022e-5
allele num: 66632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.44e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e0

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

FS
type: SiteQuality
SIO_000300: 4.212e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.68e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.299999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.37e-1

DP
type: SiteQuality
SIO_000300: 1.52712e6

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 951
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.735207357279195e-4
allele num: 11526
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.350256548744261e-4
allele num: 66654
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.39e-1

QD
type: SiteQuality
SIO_000300: 1.253e1

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 1.528395e6

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.31e0

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47664
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000390050706592e-5
allele num: 66658
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -9.759e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 1.0857e1

QD
type: SiteQuality
SIO_000300: 1.222e1

DP
type: SiteQuality
SIO_000300: 1.52815e6

MQRankSum
type: SiteQuality
SIO_000300: 4.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1559
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2111
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.3e-2

FS
type: SiteQuality
SIO_000300: 3.394e0

DP
type: SiteQuality
SIO_000300: 1.528207e6

QD
type: SiteQuality
SIO_000300: 1.051e1

VQSLOD
type: SiteQuality
SIO_000300: 7.8e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.636e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.3e-1

GenotypeQuality
all individuals: 1456
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47732
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5756
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2112
bin: 9.75e1
variant carriers: 4

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.998080614203455e-5
allele num: 66688
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.26e-1

DP
type: SiteQuality
SIO_000300: 1.528594e6

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

QD
type: SiteQuality
SIO_000300: 1.433e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

MQRankSum
type: SiteQuality
SIO_000300: 5.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.17e-1

GenotypeQuality
all individuals: 73
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 380
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3141
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1536
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2776
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 722
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 938
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1480
bin: 5.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6104
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63336
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15832
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.909479686386316e-5
allele num: 11224
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.608e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

QD
type: SiteQuality
SIO_000300: 6.19e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

DP
type: SiteQuality
SIO_000300: 1.280323e6

MQ
type: SiteQuality
SIO_000300: 5.901e1

GenotypeQuality
all individuals: 1975
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1663
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3259
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2372
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31542
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 683
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 938
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3798
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 9.75e1
variant carriers: 192

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6134
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 6.009615384615385e-3
allele num: 832
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63400
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11248
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.177055290950507e-4
allele num: 9658
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.300403225806451e-5
allele num: 15872
num of homozygotes: 0

East Asian
type: Population
allele count: 192
allele frequency: 2.267895109851169e-2
allele num: 8466
num of homozygotes: 2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.223e0

FS
type: SiteQuality
SIO_000300: 1.108e0

QD
type: SiteQuality
SIO_000300: 1.325e1

DP
type: SiteQuality
SIO_000300: 1.283716e6

VQSLOD
type: SiteQuality
SIO_000300: 5.05e0

GenotypeQuality
all individuals: 3255
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3825
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2427
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5580
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1797
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1688
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 704
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6144
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63480
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11258
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.034340091021928e-4
allele num: 9668
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -9.538e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.48e-1

QD
type: SiteQuality
SIO_000300: 5.97e0

DP
type: SiteQuality
SIO_000300: 1.285029e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-2

GenotypeQuality
all individuals: 184
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2093
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5523
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3786
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2603
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31139
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 959
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1747
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1084
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9672
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11248
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6134
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15916
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.577237311125832e-5
allele num: 63402
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.286286e6

FS
type: SiteQuality
SIO_000300: 1.194e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.3e-2

QD
type: SiteQuality
SIO_000300: 1.583e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

MQ
type: SiteQuality
SIO_000300: 5.903e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

GenotypeQuality
all individuals: 3371
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 971
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 336
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3737
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2794
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5312
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2761
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3523
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6142
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.182033096926714e-4
allele num: 8460
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11234
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.036269430051813e-4
allele num: 9650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.163055511624229e-5
allele num: 63230
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 1.294962e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

FS
type: SiteQuality
SIO_000300: 8.879e0

QD
type: SiteQuality
SIO_000300: 1.455e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.54e-1

GenotypeQuality
all individuals: 60
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2700
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1770
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2583
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 998
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3871
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2294
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63296
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.264879087833605e-5
allele num: 15962
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11220
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6130
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8402
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.87e-1

QD
type: SiteQuality
SIO_000300: 1.185e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.071e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

MQ
type: SiteQuality
SIO_000300: 5.89e1

DP
type: SiteQuality
SIO_000300: 1.298538e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.38e-1

GenotypeQuality
all individuals: 109
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35113
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 820
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1785
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 344
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2809
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1046
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1455
bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9708
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: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6186
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.573465084809768e-5
allele num: 63554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16020
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.312106e6

MQ
type: SiteQuality
SIO_000300: 5.897e1

VQSLOD
type: SiteQuality
SIO_000300: 1.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.691e0

MQRankSum
type: SiteQuality
SIO_000300: -2.63e-1

QD
type: SiteQuality
SIO_000300: 1.609e1

FS
type: SiteQuality
SIO_000300: 3.945e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.94e-1

GenotypeQuality
all individuals: 4212
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 622
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1052
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1052
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1542
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 299
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 838
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2544
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.570450405176204e-5
allele num: 63676
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6150
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11252
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9724
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16022
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -7.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.97e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.092e1

VQSLOD
type: SiteQuality
SIO_000300: 4.45e-1

FS
type: SiteQuality
SIO_000300: 6.766e0

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-1

DP
type: SiteQuality
SIO_000300: 1.320931e6

GenotypeQuality
all individuals: 1515
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 100
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2631
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1348
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1656
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1068
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4193
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35321
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 816
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9726
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11232
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.666111296234589e-4
allele num: 6002
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16022
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.573613646377541e-5
allele num: 63548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.613e0

FS
type: SiteQuality
SIO_000300: 6.652e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.83e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-2

DP
type: SiteQuality
SIO_000300: 1.341236e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.41e-1

QD
type: SiteQuality
SIO_000300: 5.82e0

GenotypeQuality
all individuals: 3926
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39797
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 102
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1762
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 977
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 895
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 696
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.559089491736826e-5
allele num: 64140
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 1.015847216578627e-3
allele num: 9844
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.650644990280969e-4
allele num: 11318
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6286
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

DP
type: SiteQuality
SIO_000300: 1.359041e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.75e0

MQ
type: SiteQuality
SIO_000300: 6.037e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.025e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.89e-1

GenotypeQuality
all individuals: 86
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1607
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 987
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40917
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 147
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1914
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.556226462074761e-5
allele num: 64258
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16178
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6308
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

DP
type: SiteQuality
SIO_000300: 1.372662e6

QD
type: SiteQuality
SIO_000300: 1.079e1

FS
type: SiteQuality
SIO_000300: 1.013e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.635e0

VQSLOD
type: SiteQuality
SIO_000300: 6.54e-1

GenotypeQuality
all individuals: 1089
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1428
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5698
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1754
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6440
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10116
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.53275497378989e-5
allele num: 65242
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16346
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.2e-2

FS
type: SiteQuality
SIO_000300: 5.84e0

MQ
type: SiteQuality
SIO_000300: 6.077e1

QD
type: SiteQuality
SIO_000300: 1.795e1

DP
type: SiteQuality
SIO_000300: 1.438388e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

GenotypeQuality
all individuals: 1453
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1644
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 157
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47147
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16352
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 6.896551724137931e-4
allele num: 10150
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65312
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

MQRankSum
type: SiteQuality
SIO_000300: -2.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.316e1

DP
type: SiteQuality
SIO_000300: 1.442184e6

GenotypeQuality
all individuals: 1521
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1451
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1113
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 105
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46856
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529753709652746e-5
allele num: 65370
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10164
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6452
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.496e0

DP
type: SiteQuality
SIO_000300: 1.44742e6

MQRankSum
type: SiteQuality
SIO_000300: -2.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.45e-1

QD
type: SiteQuality
SIO_000300: 1.38e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.68e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 1377
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 444
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47699
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 448
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1145
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.10798924993892e-5
allele num: 16372
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6458
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.579e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.66e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.864e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 4.46e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

DP
type: SiteQuality
SIO_000300: 1.452474e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.65e-1

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5967
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 67
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48618
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1159
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1493
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.568991775814804e-5
allele num: 65660
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6484
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.527e0

QD
type: SiteQuality
SIO_000300: 1.015e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.95e-1

FS
type: SiteQuality
SIO_000300: 5.023e0

MQ
type: SiteQuality
SIO_000300: 5.915e1

DP
type: SiteQuality
SIO_000300: 1.462658e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.91e-1

GenotypeQuality
all individuals: 294
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 494
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1022
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1499
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48499
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5988
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1169
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522533495736906e-5
allele num: 65680
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.46474e6

VQSLOD
type: SiteQuality
SIO_000300: -4.325e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

QD
type: SiteQuality
SIO_000300: 6.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.97e-1

GenotypeQuality
all individuals: 218
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 869
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 505
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48871
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1177
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 117
bin: 5.75e1
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: 1
allele frequency: 1.519295047098146e-5
allele num: 65820
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10258
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.085686465433301e-5
allele num: 16432
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.866e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.17e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.11e-1

FS
type: SiteQuality
SIO_000300: 2.372e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

DP
type: SiteQuality
SIO_000300: 1.470847e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.17e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.451e-1

QD
type: SiteQuality
SIO_000300: 1.378e1

GenotypeQuality
all individuals: 200
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6115
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49090
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 168
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1535
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65868
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.737921445950643e-4
allele num: 11508
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 7.26e0

DP
type: SiteQuality
SIO_000300: 1.473207e6

VQSLOD
type: SiteQuality
SIO_000300: -1.744e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQRankSum
type: SiteQuality
SIO_000300: 9.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-1

MQ
type: SiteQuality
SIO_000300: 5.849e1

FS
type: SiteQuality
SIO_000300: 7.333e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.47e-1

GenotypeQuality
all individuals: 39
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1541
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6181
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 587
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49438
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 69
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1189
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 5.830903790087463e-4
allele num: 10290
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66046
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.82e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.479867e6

QD
type: SiteQuality
SIO_000300: 9.43e0

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

GenotypeQuality
all individuals: 500
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 49085
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1539
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1186
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6181
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66100
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.706853038245001e-5
allele num: 10302
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 9.47e-1

FS
type: SiteQuality
SIO_000300: 3.561e0

VQSLOD
type: SiteQuality
SIO_000300: -9.532e-1

DP
type: SiteQuality
SIO_000300: 1.481083e6

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.607e0

QD
type: SiteQuality
SIO_000300: 9.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 91
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1543
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49196
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6203
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1191
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 111
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66122
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-2

DP
type: SiteQuality
SIO_000300: 1.482886e6

VQSLOD
type: SiteQuality
SIO_000300: 8.129999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.099e0

FS
type: SiteQuality
SIO_000300: 1.585e0

QD
type: SiteQuality
SIO_000300: 1.21e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
all individuals: 491
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1204
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 140
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49466
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66128
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
SIO_000300: -3.77e-1

FS
type: SiteQuality
SIO_000300: 2.369e0

DP
type: SiteQuality
SIO_000300: 1.48357e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.101e0

VQSLOD
type: SiteQuality
SIO_000300: 3.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.737e0

QD
type: SiteQuality
SIO_000300: 1.224e1

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

GenotypeQuality
all individuals: 117
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1177
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 49388
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1552
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6250
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512218727316719e-5
allele num: 66128
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.484505e6

MQRankSum
type: SiteQuality
SIO_000300: -1.57e-1

QD
type: SiteQuality
SIO_000300: 9.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.87e-1

GenotypeQuality
all individuals: 49368
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1178
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 77
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 472
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66148
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

South Asian
type: Population
allele count: 6
allele frequency: 3.63901018922853e-4
allele num: 16488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.952e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

QD
type: SiteQuality
SIO_000300: 8.140000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 4.84e-1

DP
type: SiteQuality
SIO_000300: 1.48515e6

FS
type: SiteQuality
SIO_000300: 1.782e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.88e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1172
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6237
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1551
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 9.75e1
variant carriers: 42

GenotypeQuality
all individuals: 171
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.68429207824908e-5
allele num: 10326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 40
allele frequency: 6.045400961218753e-4
allele num: 66166
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.968e1

MQRankSum
type: SiteQuality
SIO_000300: 4.47e-1

DP
type: SiteQuality
SIO_000300: 1.487227e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.6e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.04e-1

QD
type: SiteQuality
SIO_000300: 1.25e1

VQSLOD
type: SiteQuality
SIO_000300: 4.61e0

GenotypeQuality
all individuals: 39
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 111
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 131
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1151
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6264
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

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

African
type: Population
allele count: 6
allele frequency: 5.81170089112747e-4
allele num: 10324
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66204
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.487172e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.764e0

QD
type: SiteQuality
SIO_000300: 1.129e1

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.35e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

MQRankSum
type: SiteQuality
SIO_000300: 6.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 2.924e0

GenotypeQuality
all individuals: 480
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48866
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1143
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1524
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66194
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.293e0

QD
type: SiteQuality
SIO_000300: 1.778e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.83e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.486887e6

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

VQSLOD
type: SiteQuality
SIO_000300: -6.163999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.94e-1

GenotypeQuality
all individuals: 469
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 48873
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1136
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 168
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66192
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.826e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

QD
type: SiteQuality
SIO_000300: 2.102e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

VQSLOD
type: SiteQuality
SIO_000300: -2.18e0

DP
type: SiteQuality
SIO_000300: 1.487207e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

GenotypeQuality
all individuals: 217
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1137
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 250
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 249
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1516
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48916
bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510619656182966e-5
allele num: 66198
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.112e1

MQ
type: SiteQuality
SIO_000300: 5.92e1

DP
type: SiteQuality
SIO_000300: 1.487132e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.64e-1

FS
type: SiteQuality
SIO_000300: 1.199e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.99e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 6.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.81e-1

GenotypeQuality
all individuals: 409
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6124
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1492
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1127
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66206
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.667013347200555e-5
allele num: 11538
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.756e0

DP
type: SiteQuality
SIO_000300: 1.487116e6

VQSLOD
type: SiteQuality
SIO_000300: 3.24e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.88e-1

GenotypeQuality
all individuals: 1478
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 279
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1132
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6147
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48673
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.678668215253581e-5
allele num: 10332
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66194
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.65e-1

DP
type: SiteQuality
SIO_000300: 1.487056e6

FS
type: SiteQuality
SIO_000300: 2.158e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.146e0

QD
type: SiteQuality
SIO_000300: 1.087e1

VQSLOD
type: SiteQuality
SIO_000300: 3.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

MQ
type: SiteQuality
SIO_000300: 5.917e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

GenotypeQuality
all individuals: 465
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1136
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1476
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6068
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66190
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.673026886383348e-5
allele num: 11530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.529e0

QD
type: SiteQuality
SIO_000300: 1.251e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.53e-1

FS
type: SiteQuality
SIO_000300: 2.909e0

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

DP
type: SiteQuality
SIO_000300: 1.487213e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 44
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6063
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66160
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.919e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.73e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-1

DP
type: SiteQuality
SIO_000300: 1.488021e6

FS
type: SiteQuality
SIO_000300: 4.443e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

QD
type: SiteQuality
SIO_000300: 7.34e0

VQSLOD
type: SiteQuality
SIO_000300: -1.286e0

GenotypeQuality
all individuals: 158
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1146
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6091
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 204
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509980974239725e-5
allele num: 66226
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.87e-1

QD
type: SiteQuality
SIO_000300: 7.99e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.011e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.43e-1

DP
type: SiteQuality
SIO_000300: 1.492403e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.91e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.196e-1

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

GenotypeQuality
all individuals: 384
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6161
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1473
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1112
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.525159888982744e-5
allele num: 66296
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

DP
type: SiteQuality
SIO_000300: 1.499122e6

QD
type: SiteQuality
SIO_000300: 1.387e1

FS
type: SiteQuality
SIO_000300: 2.468e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.181e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-1

MQ
type: SiteQuality
SIO_000300: 5.916e1

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

GenotypeQuality
all individuals: 348
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 111
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6167
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50139
bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66318
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.478e1

MQRankSum
type: SiteQuality
SIO_000300: 2.07e0

FS
type: SiteQuality
SIO_000300: 9.249000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e0

VQSLOD
type: SiteQuality
SIO_000300: -4.473e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.501272e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.259e0

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6182
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 165
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50355
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 2.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506477854775535e-5
allele num: 66380
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.893e0

FS
type: SiteQuality
SIO_000300: 1.8e0

QD
type: SiteQuality
SIO_000300: 1.075e1

DP
type: SiteQuality
SIO_000300: 1.503769e6

GenotypeQuality
all individuals: 480
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6182
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1136
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1480
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 9.75e1
variant carriers: 4

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.519433564326604e-5
allele num: 66380
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.682416731216112e-5
allele num: 10328
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.893e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.961e1

MQRankSum
type: SiteQuality
SIO_000300: 8.9e-2

QD
type: SiteQuality
SIO_000300: 1.075e1

FS
type: SiteQuality
SIO_000300: 1.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

DP
type: SiteQuality
SIO_000300: 1.503769e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.77e-1

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 56
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1480
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 50370
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66380
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 2.098e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.665e0

DP
type: SiteQuality
SIO_000300: 1.503489e6

MQRankSum
type: SiteQuality
SIO_000300: -3.448e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.496e0

MQ
type: SiteQuality
SIO_000300: 5.552e1

QD
type: SiteQuality
SIO_000300: 5.48e0

VQSLOD
type: SiteQuality
SIO_000300: 9.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.76e-1

GenotypeQuality
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1478
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6160
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.598302442404296e-4
allele num: 11546
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66374
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.949e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.2e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.567e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.44e-1

FS
type: SiteQuality
SIO_000300: 9.395e0

QD
type: SiteQuality
SIO_000300: 1.264e1

DP
type: SiteQuality
SIO_000300: 1.503897e6

GenotypeQuality
all individuals: 1483
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1137
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6166
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66386
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.503762e6

QD
type: SiteQuality
SIO_000300: 2.35e0

VQSLOD
type: SiteQuality
SIO_000300: -9.452e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.137e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.975e0

FS
type: SiteQuality
SIO_000300: 5.814e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.62e1

GenotypeQuality
all individuals: 1138
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1482
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 50390
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.412e0

MQRankSum
type: SiteQuality
SIO_000300: -3.431e0

FS
type: SiteQuality
SIO_000300: 2.072e0

DP
type: SiteQuality
SIO_000300: 1.50388e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.461e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.521e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e0

VQSLOD
type: SiteQuality
SIO_000300: -1.761e0

QD
type: SiteQuality
SIO_000300: 1.69e0

GenotypeQuality
all individuals: 110
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1130
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 204
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 481
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6174
bin: 6.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506886471173262e-5
allele num: 66362
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.3446e1

VQSLOD
type: SiteQuality
SIO_000300: -1.858e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.49e-1

MQ
type: SiteQuality
SIO_000300: 5.848e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.3e-2

QD
type: SiteQuality
SIO_000300: 9.07e0

DP
type: SiteQuality
SIO_000300: 1.503458e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.79e-1

GenotypeQuality
all individuals: 207
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6166
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 482
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1475
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50312
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 51
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.02990834539315e-5
allele num: 66336
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.936e1

DP
type: SiteQuality
SIO_000300: 1.503119e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.02e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.05e-1

FS
type: SiteQuality
SIO_000300: 9.399999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.32e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.77e0

VQSLOD
type: SiteQuality
SIO_000300: 7.69e-1

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 210
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1131
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 2.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.033182503770739e-5
allele num: 66300
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.673026886383348e-5
allele num: 11530
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.071645415907711e-5
allele num: 16470
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.50269e6

QD
type: SiteQuality
SIO_000300: 1.416e1

MQRankSum
type: SiteQuality
SIO_000300: 6.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.959e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.24e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 1476
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50205
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1128
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 483
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50879628232596e-5
allele num: 66278
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.036e0

QD
type: SiteQuality
SIO_000300: 9.27e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e0

FS
type: SiteQuality
SIO_000300: 1.45e0

MQRankSum
type: SiteQuality
SIO_000300: 6.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.665e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.464e0

DP
type: SiteQuality
SIO_000300: 1.501952e6

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 660
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1122
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1470
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 50023
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.082725060827251e-5
allele num: 16440
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66094
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.064e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.31e-1

MQ
type: SiteQuality
SIO_000300: 5.927e1

VQSLOD
type: SiteQuality
SIO_000300: -2.04e-2

QD
type: SiteQuality
SIO_000300: 1.017e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

DP
type: SiteQuality
SIO_000300: 1.498533e6

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49738
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 60
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1463
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10154
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65936
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.088650754992694e-5
allele num: 16424
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.966e1

MQRankSum
type: SiteQuality
SIO_000300: 2.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.494698e6

QD
type: SiteQuality
SIO_000300: 1.062e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.13e0

VQSLOD
type: SiteQuality
SIO_000300: -8.456e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

GenotypeQuality
all individuals: 57
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1464
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49758
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10150
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516898246465627e-5
allele num: 65924
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.494539e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

FS
type: SiteQuality
SIO_000300: 6.943e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.379999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.09e1

GenotypeQuality
all individuals: 49175
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1434
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1108
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65686
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10086
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.329373398555789e-4
allele num: 8586
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.124e1

MQRankSum
type: SiteQuality
SIO_000300: -1.46e-1

FS
type: SiteQuality
SIO_000300: 1.698e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.957e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.656e0

VQSLOD
type: SiteQuality
SIO_000300: 9.64e-1

DP
type: SiteQuality
SIO_000300: 1.486685e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.23e-1

GenotypeQuality
all individuals: 194
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1344
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1104
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 111
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10064
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.105751618024179e-5
allele num: 16378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65570
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.97e0

MQ
type: SiteQuality
SIO_000300: 5.901e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.22e0

QD
type: SiteQuality
SIO_000300: 1.448e1

FS
type: SiteQuality
SIO_000300: 4.475e0

VQSLOD
type: SiteQuality
SIO_000300: -1.563e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 1.482597e6

GenotypeQuality
all individuals: 232
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5988
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1390
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 37
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1416
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.37324910738808e-4
allele num: 65538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10052
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.139999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.89e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.02e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

FS
type: SiteQuality
SIO_000300: 7.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.423e0

MQRankSum
type: SiteQuality
SIO_000300: 7.3e-2

QD
type: SiteQuality
SIO_000300: 1.322e1

DP
type: SiteQuality
SIO_000300: 1.481827e6

GenotypeQuality
all individuals: 111
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1080
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1908
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65298
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16350
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11372
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.998800479808077e-4
allele num: 10004
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 2.268e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-2

DP
type: SiteQuality
SIO_000300: 1.468791e6

QD
type: SiteQuality
SIO_000300: 1.454e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.49e0

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1067
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5796
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1373
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65136
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.826125330979699e-5
allele num: 11330
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9968
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16332
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.755e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

DP
type: SiteQuality
SIO_000300: 1.455094e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.366e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.166e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

QD
type: SiteQuality
SIO_000300: 1.418e1

GenotypeQuality
all individuals: 640
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46530
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1368
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 343
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1057
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5764
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536617597344725e-5
allele num: 65078
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9968
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11314
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.287e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.585e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.419999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.451611e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.99e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.42e0

GenotypeQuality
all individuals: 2750
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1363
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 46166
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5745
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9960
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65026
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.849557522123894e-5
allele num: 11300
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16314
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6484
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

DP
type: SiteQuality
SIO_000300: 1.446504e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.254e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.298e0

QD
type: SiteQuality
SIO_000300: 1.285e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.932e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e0

GenotypeQuality
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1349
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1043
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5571
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9924
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64834
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: 888
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.136475208640157e-5
allele num: 16296
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.92e-1

QD
type: SiteQuality
SIO_000300: 1.163e1

VQSLOD
type: SiteQuality
SIO_000300: 7.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.32e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.428751e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.049e0

GenotypeQuality
all individuals: 170
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36611
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1283
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5016
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8350
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.017501017501017e-4
allele num: 9828
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11116
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64150
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.16e0

DP
type: SiteQuality
SIO_000300: 1.341996e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.6e0

FS
type: SiteQuality
SIO_000300: 2.072e0

QD
type: SiteQuality
SIO_000300: 1.691e1

VQSLOD
type: SiteQuality
SIO_000300: 5.43e-1

GenotypeQuality
all individuals: 446
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3629
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4820
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2553
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33948
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2561
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16246
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.561572816140417e-5
allele num: 64038
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11098
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6404
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8334
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.497e1

FS
type: SiteQuality
SIO_000300: 1.2289e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.961e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.473e0

DP
type: SiteQuality
SIO_000300: 1.319803e6

VQSLOD
type: SiteQuality
SIO_000300: -1.6e0

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e-1