16-2136174-CCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136174
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136172
    reference: chr 16
allele count: 34
allele frequency: 2.887473460721869e-4
allele num: 117750
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4534-16_4534-15delTC
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4354-16_4354-15delTC
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2421-16_2421-15delTC
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4318-16_4318-15delTC
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.845-16_845-15delTC
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4594-16_4594-15delTC
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4495-16_4495-15delTC
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4663-16_4663-15delTC
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4462-16_4462-15delTC
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3830-16_*3830-15delTC
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1778-16_1778-15delTC
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21957
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24086
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6292
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: CCT
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

16-2136180-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136180
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136180
    reference: chr 16
allele count: 5
allele frequency: 4.236282915918257e-5
allele num: 118028
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4462-14C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4663-14C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4318-14C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.845-14C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2421-14C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4534-14C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4495-14C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1778-14C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3830-14C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4354-14C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4594-14C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6323
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

16-2136182-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136182
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136182
    reference: chr 16
allele count: 1
allele frequency: 8.465393471488555e-6
allele num: 118128
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4462-12C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1778-12C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4354-12C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3830-12C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4594-12C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.845-12C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4318-12C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4534-12C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4495-12C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2421-12C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4663-12C>G
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6349
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff

16-2136182-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136182
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136182
    reference: chr 16
allele count: 3
allele frequency: 2.539618041446566e-5
allele num: 118128
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4495-12C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3830-12C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4594-12C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2421-12C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4462-12C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4534-12C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4663-12C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1778-12C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4354-12C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4318-12C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.845-12C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6349
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

16-2136184-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136184
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136184
    reference: chr 16
allele count: 2
allele frequency: 1.691589417416605e-5
allele num: 118232
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.845-10C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1778-10C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3830-10C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4594-10C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4462-10C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4534-10C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4354-10C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2421-10C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4663-10C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4318-10C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4495-10C>G
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/16-2136186-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136186
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136186
    reference: chr 16
allele count: 1
allele frequency: 8.451370812345762e-6
allele num: 118324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2421-8C>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4354-8C>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4495-8C>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.845-8C>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4318-8C>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4462-8C>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1778-8C>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3830-8C>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4594-8C>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4534-8C>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4663-8C>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6349
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22280
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.4663-8C>A
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

16-2136186-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136186
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136186
    reference: chr 16
allele count: 1
allele frequency: 8.451370812345762e-6
allele num: 118324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4354-8C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4495-8C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4462-8C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4534-8C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4663-8C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.845-8C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4318-8C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1778-8C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3830-8C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2421-8C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4594-8C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6349
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.4663-8C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

16-2136187-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136187
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136187
    reference: chr 16
allele count: 8
allele frequency: 6.75652849565893e-5
allele num: 118404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4594-7C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2421-7C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3830-7C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4318-7C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4663-7C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1778-7C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4495-7C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4354-7C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.845-7C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4462-7C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4534-7C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.4663-7C>T
num of homozygotes: 1
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

16-2136202-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136202
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136202
    reference: chr 16
allele count: 8
allele frequency: 6.729361888258946e-5
allele num: 118882
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4602C>T
  hgvsp: ENST00000350773.4:c.4602C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1786C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4326C>T
  hgvsp: ENST00000382538.6:c.4326C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3838C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4362C>T
  hgvsp: ENST00000439673.2:c.4362C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4671C>T
  hgvsp: ENST00000219476.3:c.4671C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.853C>T
  hgvsp: ENST00000569110.1:c.853C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4542C>T
  hgvsp: ENST00000353929.4:c.4542C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2429C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4503C>T
  hgvsp: ENST00000568454.1:c.4503C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4470C>T
  hgvsp: ENST00000401874.2:c.4470C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24654
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22377
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser1557Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

16-2136208-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136208
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136208
    reference: chr 16
allele count: 3
allele frequency: 2.517369851978653e-5
allele num: 119172
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4608C>T
  hgvsp: ENST00000350773.4:c.4608C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2435C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4548C>T
  hgvsp: ENST00000353929.4:c.4548C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3844C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4368C>T
  hgvsp: ENST00000439673.2:c.4368C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4332C>T
  hgvsp: ENST00000382538.6:c.4332C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4476C>T
  hgvsp: ENST00000401874.2:c.4476C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.859C>T
  hgvsp: ENST00000569110.1:c.859C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4509C>T
  hgvsp: ENST00000568454.1:c.4509C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4677C>T
  hgvsp: ENST00000219476.3:c.4677C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1792C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1559Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

16-2136209-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136209
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136209
    reference: chr 16
allele count: 1
allele frequency: 8.388698745050668e-6
allele num: 119208
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2436G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4510G>A
  hgvsp: ENSP00000454487.1:p.Ala1504Thr
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4609G>A
  hgvsp: ENSP00000344383.4:p.Ala1537Thr
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4678G>A
  hgvsp: ENSP00000219476.3:p.Ala1560Thr
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4369G>A
  hgvsp: ENSP00000399232.2:p.Ala1457Thr
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.860G>A
  hgvsp: ENSP00000455817.1:p.Ala288Thr
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4549G>A
  hgvsp: ENSP00000248099.4:p.Ala1517Thr
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4477G>A
  hgvsp: ENSP00000384468.2:p.Ala1493Thr
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3845G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4333G>A
  hgvsp: ENSP00000371978.6:p.Ala1445Thr
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1793G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1560Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

16-2136211-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136211
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136211
    reference: chr 16
allele count: 11
allele frequency: 9.2185981026449e-5
allele num: 119324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4335C>T
  hgvsp: ENST00000382538.6:c.4335C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4512C>T
  hgvsp: ENST00000568454.1:c.4512C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4551C>T
  hgvsp: ENST00000353929.4:c.4551C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.862C>T
  hgvsp: ENST00000569110.1:c.862C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4611C>T
  hgvsp: ENST00000350773.4:c.4611C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4680C>T
  hgvsp: ENST00000219476.3:c.4680C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4371C>T
  hgvsp: ENST00000439673.2:c.4371C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3847C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1795C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2438C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4479C>T
  hgvsp: ENST00000401874.2:c.4479C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6475
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1560Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

16-2136214-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136214
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136214
    reference: chr 16
allele count: 15
allele frequency: 1.256176199648271e-4
allele num: 119410
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.865C>T
  hgvsp: ENST00000569110.1:c.865C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4338C>T
  hgvsp: ENST00000382538.6:c.4338C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4515C>T
  hgvsp: ENST00000568454.1:c.4515C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4374C>T
  hgvsp: ENST00000439673.2:c.4374C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4614C>T
  hgvsp: ENST00000350773.4:c.4614C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1798C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4554C>T
  hgvsp: ENST00000353929.4:c.4554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3850C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4683C>T
  hgvsp: ENST00000219476.3:c.4683C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4482C>T
  hgvsp: ENST00000401874.2:c.4482C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2441C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24814
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile1561Ile
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

16-2136217-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136217
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136217
    reference: chr 16
allele count: 1
allele frequency: 8.371283150281276e-6
allele num: 119456
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4377G>T
  hgvsp: ENST00000439673.2:c.4377G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4518G>T
  hgvsp: ENST00000568454.1:c.4518G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4617G>T
  hgvsp: ENST00000350773.4:c.4617G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4341G>T
  hgvsp: ENST00000382538.6:c.4341G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1801G>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2444G>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4485G>T
  hgvsp: ENST00000401874.2:c.4485G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4686G>T
  hgvsp: ENST00000219476.3:c.4686G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.868G>T
  hgvsp: ENST00000569110.1:c.868G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3853G>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4557G>T
  hgvsp: ENST00000353929.4:c.4557G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22557
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1562Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

16-2136218-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136218
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136218
    reference: chr 16
allele count: 1
allele frequency: 8.370722560771445e-6
allele num: 119464
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4558T>A
  hgvsp: ENSP00000248099.4:p.Ser1520Thr
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3854T>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4342T>A
  hgvsp: ENSP00000371978.6:p.Ser1448Thr
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4618T>A
  hgvsp: ENSP00000344383.4:p.Ser1540Thr
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4486T>A
  hgvsp: ENSP00000384468.2:p.Ser1496Thr
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4378T>A
  hgvsp: ENSP00000399232.2:p.Ser1460Thr
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4519T>A
  hgvsp: ENSP00000454487.1:p.Ser1507Thr
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4687T>A
  hgvsp: ENSP00000219476.3:p.Ser1563Thr
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2445T>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.869T>A
  hgvsp: ENSP00000455817.1:p.Ser291Thr
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1802T>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24850
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser1563Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

16-2136219-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136219
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136219
    reference: chr 16
allele count: 2
allele frequency: 1.674032409267444e-5
allele num: 119472
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4688C>G
  hgvsp: ENSP00000219476.3:p.Ser1563Cys
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4379C>G
  hgvsp: ENSP00000399232.2:p.Ser1460Cys
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3855C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4520C>G
  hgvsp: ENSP00000454487.1:p.Ser1507Cys
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4343C>G
  hgvsp: ENSP00000371978.6:p.Ser1448Cys
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4559C>G
  hgvsp: ENSP00000248099.4:p.Ser1520Cys
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2446C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4487C>G
  hgvsp: ENSP00000384468.2:p.Ser1496Cys
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4619C>G
  hgvsp: ENSP00000344383.4:p.Ser1540Cys
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.870C>G
  hgvsp: ENSP00000455817.1:p.Ser291Cys
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1803C>G
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser1563Cys
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum

16-2136223-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136223
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136223
    reference: chr 16
allele count: 1
allele frequency: 8.366940544520491e-6
allele num: 119518
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1807T>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4524T>C
  hgvsp: ENST00000568454.1:c.4524T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2450T>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4347T>C
  hgvsp: ENST00000382538.6:c.4347T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4563T>C
  hgvsp: ENST00000353929.4:c.4563T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4491T>C
  hgvsp: ENST00000401874.2:c.4491T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.874T>C
  hgvsp: ENST00000569110.1:c.874T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4692T>C
  hgvsp: ENST00000219476.3:c.4692T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4383T>C
  hgvsp: ENST00000439673.2:c.4383T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4623T>C
  hgvsp: ENST00000350773.4:c.4623T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3859T>C
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn1564Asn
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

16-2136226-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136226
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136226
    reference: chr 16
allele count: 1
allele frequency: 8.365400702693659e-6
allele num: 119540
alternate allele: A
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4695G>A
  hgvsp: ENST00000219476.3:c.4695G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4566G>A
  hgvsp: ENST00000353929.4:c.4566G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4626G>A
  hgvsp: ENST00000350773.4:c.4626G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.877G>A
  hgvsp: ENST00000569110.1:c.877G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3862G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2453G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4527G>A
  hgvsp: ENST00000568454.1:c.4527G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4494G>A
  hgvsp: ENST00000401874.2:c.4494G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4386G>A
  hgvsp: ENST00000439673.2:c.4386G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1810G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4350G>A
  hgvsp: ENST00000382538.6:c.4350G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1565Glu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD

16-2136238-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136238
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136238
    reference: chr 16
allele count: 2
allele frequency: 1.672156915204923e-5
allele num: 119606
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4578C>T
  hgvsp: ENST00000353929.4:c.4578C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4506C>T
  hgvsp: ENST00000401874.2:c.4506C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4362C>T
  hgvsp: ENST00000382538.6:c.4362C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4707C>T
  hgvsp: ENST00000219476.3:c.4707C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4539C>T
  hgvsp: ENST00000568454.1:c.4539C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4398C>T
  hgvsp: ENST00000439673.2:c.4398C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.889C>T
  hgvsp: ENST00000569110.1:c.889C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2465C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4638C>T
  hgvsp: ENST00000350773.4:c.4638C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3874C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1822C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr1569Tyr
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

16-2136247-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136247
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136247
    reference: chr 16
allele count: 4
allele frequency: 3.343251646551436e-5
allele num: 119644
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4371G>A
  hgvsp: ENST00000382538.6:c.4371G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4587G>A
  hgvsp: ENST00000353929.4:c.4587G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2474G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4647G>A
  hgvsp: ENST00000350773.4:c.4647G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4548G>A
  hgvsp: ENST00000568454.1:c.4548G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.898G>A
  hgvsp: ENST00000569110.1:c.898G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4515G>A
  hgvsp: ENST00000401874.2:c.4515G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1831G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4407G>A
  hgvsp: ENST00000439673.2:c.4407G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4716G>A
  hgvsp: ENST00000219476.3:c.4716G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3883G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1572Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

16-2136247-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136247
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136247
    reference: chr 16
allele count: 5
allele frequency: 4.179064558189295e-5
allele num: 119644
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4515G>C
  hgvsp: ENST00000401874.2:c.4515G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4371G>C
  hgvsp: ENST00000382538.6:c.4371G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3883G>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4407G>C
  hgvsp: ENST00000439673.2:c.4407G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1831G>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4548G>C
  hgvsp: ENST00000568454.1:c.4548G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.898G>C
  hgvsp: ENST00000569110.1:c.898G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4587G>C
  hgvsp: ENST00000353929.4:c.4587G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4647G>C
  hgvsp: ENST00000350773.4:c.4647G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4716G>C
  hgvsp: ENST00000219476.3:c.4716G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2474G>C
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr1572Thr
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

16-2136250-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136250
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136250
    reference: chr 16
allele count: 5
allele frequency: 4.178645450290833e-5
allele num: 119656
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4551G>A
  hgvsp: ENST00000568454.1:c.4551G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4650G>A
  hgvsp: ENST00000350773.4:c.4650G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4374G>A
  hgvsp: ENST00000382538.6:c.4374G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4719G>A
  hgvsp: ENST00000219476.3:c.4719G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3886G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.901G>A
  hgvsp: ENST00000569110.1:c.901G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1834G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4590G>A
  hgvsp: ENST00000353929.4:c.4590G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2477G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4410G>A
  hgvsp: ENST00000439673.2:c.4410G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4518G>A
  hgvsp: ENST00000401874.2:c.4518G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6504
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1573Glu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

16-2136253-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136253
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136253
    reference: chr 16
allele count: 4
allele frequency: 3.343363423604146e-5
allele num: 119640
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1837C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4653C>T
  hgvsp: ENST00000350773.4:c.4653C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4413C>T
  hgvsp: ENST00000439673.2:c.4413C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4593C>T
  hgvsp: ENST00000353929.4:c.4593C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3889C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4722C>T
  hgvsp: ENST00000219476.3:c.4722C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4377C>T
  hgvsp: ENST00000382538.6:c.4377C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2480C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4554C>T
  hgvsp: ENST00000568454.1:c.4554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.904C>T
  hgvsp: ENST00000569110.1:c.904C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4521C>T
  hgvsp: ENST00000401874.2:c.4521C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6503
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe1574Phe
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/16-2136258-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136258
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136258
    reference: chr 16
allele count: 2
allele frequency: 1.671541997492687e-5
allele num: 119650
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4418C>A
  hgvsp: ENSP00000399232.2:p.Thr1473Lys
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4658C>A
  hgvsp: ENSP00000344383.4:p.Thr1553Lys
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4559C>A
  hgvsp: ENSP00000454487.1:p.Thr1520Lys
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2485C>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4382C>A
  hgvsp: ENSP00000371978.6:p.Thr1461Lys
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.909C>A
  hgvsp: ENSP00000455817.1:p.Thr304Lys
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4598C>A
  hgvsp: ENSP00000248099.4:p.Thr1533Lys
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4727C>A
  hgvsp: ENSP00000219476.3:p.Thr1576Lys
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3894C>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4526C>A
  hgvsp: ENSP00000384468.2:p.Thr1509Lys
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1842C>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1576Lys
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD

16-2136258-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136258
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136258
    reference: chr 16
allele count: 1
allele frequency: 8.357709987463435e-6
allele num: 119650
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4382C>T
  hgvsp: ENSP00000371978.6:p.Thr1461Met
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4559C>T
  hgvsp: ENSP00000454487.1:p.Thr1520Met
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4418C>T
  hgvsp: ENSP00000399232.2:p.Thr1473Met
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4526C>T
  hgvsp: ENSP00000384468.2:p.Thr1509Met
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.909C>T
  hgvsp: ENSP00000455817.1:p.Thr304Met
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4727C>T
  hgvsp: ENSP00000219476.3:p.Thr1576Met
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3894C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1842C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4658C>T
  hgvsp: ENSP00000344383.4:p.Thr1553Met
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2485C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4598C>T
  hgvsp: ENSP00000248099.4:p.Thr1533Met
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr1576Met
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS

16-2136259-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136259
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136259
    reference: chr 16
allele count: 1
allele frequency: 8.357430591538938e-6
allele num: 119654
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1843G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4560G>A
  hgvsp: ENST00000568454.1:c.4560G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4599G>A
  hgvsp: ENST00000353929.4:c.4599G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4728G>A
  hgvsp: ENST00000219476.3:c.4728G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4527G>A
  hgvsp: ENST00000401874.2:c.4527G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4383G>A
  hgvsp: ENST00000382538.6:c.4383G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3895G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4659G>A
  hgvsp: ENST00000350773.4:c.4659G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4419G>A
  hgvsp: ENST00000439673.2:c.4419G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.910G>A
  hgvsp: ENST00000569110.1:c.910G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2486G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1576Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

16-2136259-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136259
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136259
    reference: chr 16
allele count: 1
allele frequency: 8.357430591538938e-6
allele num: 119654
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4659G>C
  hgvsp: ENST00000350773.4:c.4659G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4560G>C
  hgvsp: ENST00000568454.1:c.4560G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4419G>C
  hgvsp: ENST00000439673.2:c.4419G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4527G>C
  hgvsp: ENST00000401874.2:c.4527G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1843G>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.910G>C
  hgvsp: ENST00000569110.1:c.910G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4728G>C
  hgvsp: ENST00000219476.3:c.4728G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3895G>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4599G>C
  hgvsp: ENST00000353929.4:c.4599G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2486G>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4383G>C
  hgvsp: ENST00000382538.6:c.4383G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1576Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP

16-2136269-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136269
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136269
    reference: chr 16
allele count: 2
allele frequency: 1.671597880413888e-5
allele num: 119646
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4570C>T
  hgvsp: ENSP00000454487.1:p.Arg1524Trp
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2496C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4537C>T
  hgvsp: ENSP00000384468.2:p.Arg1513Trp
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4669C>T
  hgvsp: ENSP00000344383.4:p.Arg1557Trp
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.920C>T
  hgvsp: ENSP00000455817.1:p.Arg308Trp
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4393C>T
  hgvsp: ENSP00000371978.6:p.Arg1465Trp
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4429C>T
  hgvsp: ENSP00000399232.2:p.Arg1477Trp
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4738C>T
  hgvsp: ENSP00000219476.3:p.Arg1580Trp
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4609C>T
  hgvsp: ENSP00000248099.4:p.Arg1537Trp
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3905C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1853C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg1580Trp
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/16-2136277-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136277
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136277
    reference: chr 16
allele count: 1
allele frequency: 8.358688020328329e-6
allele num: 119636
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4617C>A
  hgvsp: ENST00000353929.4:c.4617C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4437C>A
  hgvsp: ENST00000439673.2:c.4437C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4746C>A
  hgvsp: ENST00000219476.3:c.4746C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.928C>A
  hgvsp: ENST00000569110.1:c.928C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4401C>A
  hgvsp: ENST00000382538.6:c.4401C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4545C>A
  hgvsp: ENST00000401874.2:c.4545C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2504C>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4677C>A
  hgvsp: ENST00000350773.4:c.4677C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4578C>A
  hgvsp: ENST00000568454.1:c.4578C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1861C>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3913C>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6495
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ile1582Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

16-2136277-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136277
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136277
    reference: chr 16
allele count: 1
allele frequency: 8.358688020328329e-6
allele num: 119636
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.928C>T
  hgvsp: ENST00000569110.1:c.928C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4545C>T
  hgvsp: ENST00000401874.2:c.4545C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4677C>T
  hgvsp: ENST00000350773.4:c.4677C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4746C>T
  hgvsp: ENST00000219476.3:c.4746C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2504C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4401C>T
  hgvsp: ENST00000382538.6:c.4401C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1861C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4578C>T
  hgvsp: ENST00000568454.1:c.4578C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4437C>T
  hgvsp: ENST00000439673.2:c.4437C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3913C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4617C>T
  hgvsp: ENST00000353929.4:c.4617C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22227
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6495
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile1582Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS

16-2136285-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136285
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136285
    reference: chr 16
allele count: 1
allele frequency: 8.362322718758362e-6
allele num: 119584
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.936A>G
  hgvsp: ENSP00000455817.1:p.Lys313Arg
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4625A>G
  hgvsp: ENSP00000248099.4:p.Lys1542Arg
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4586A>G
  hgvsp: ENSP00000454487.1:p.Lys1529Arg
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1869A>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4685A>G
  hgvsp: ENSP00000344383.4:p.Lys1562Arg
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3921A>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4754A>G
  hgvsp: ENSP00000219476.3:p.Lys1585Arg
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4553A>G
  hgvsp: ENSP00000384468.2:p.Lys1518Arg
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4409A>G
  hgvsp: ENSP00000371978.6:p.Lys1470Arg
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2512A>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4445A>G
  hgvsp: ENSP00000399232.2:p.Lys1482Arg
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys1585Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

16-2136297-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136297
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136297
    reference: chr 16
allele count: 1
allele frequency: 8.368761088608442e-6
allele num: 119492
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4598C>T
  hgvsp: ENSP00000454487.1:p.Pro1533Leu
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4421C>T
  hgvsp: ENSP00000371978.6:p.Pro1474Leu
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4457C>T
  hgvsp: ENSP00000399232.2:p.Pro1486Leu
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.948C>T
  hgvsp: ENSP00000455817.1:p.Pro317Leu
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2524C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4637C>T
  hgvsp: ENSP00000248099.4:p.Pro1546Leu
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1881C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4766C>T
  hgvsp: ENSP00000219476.3:p.Pro1589Leu
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4697C>T
  hgvsp: ENSP00000344383.4:p.Pro1566Leu
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4565C>T
  hgvsp: ENSP00000384468.2:p.Pro1522Leu
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3933C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1589Leu
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

16-2136298-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136298
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136298
    reference: chr 16
allele count: 4
allele frequency: 3.348625389277701e-5
allele num: 119452
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4638G>A
  hgvsp: ENST00000353929.4:c.4638G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4458G>A
  hgvsp: ENST00000439673.2:c.4458G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4698G>A
  hgvsp: ENST00000350773.4:c.4698G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4566G>A
  hgvsp: ENST00000401874.2:c.4566G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4599G>A
  hgvsp: ENST00000568454.1:c.4599G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.949G>A
  hgvsp: ENST00000569110.1:c.949G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4767G>A
  hgvsp: ENST00000219476.3:c.4767G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4422G>A
  hgvsp: ENST00000382538.6:c.4422G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2525G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3934G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1882G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21963
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1589Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD

16-2136310-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136310
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136310
    reference: chr 16
allele count: 1
allele frequency: 8.38208915190022e-6
allele num: 119302
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4710C>T
  hgvsp: ENST00000350773.4:c.4710C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4470C>T
  hgvsp: ENST00000439673.2:c.4470C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1894C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4779C>T
  hgvsp: ENST00000219476.3:c.4779C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4434C>T
  hgvsp: ENST00000382538.6:c.4434C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.961C>T
  hgvsp: ENST00000569110.1:c.961C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3946C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4650C>T
  hgvsp: ENST00000353929.4:c.4650C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4611C>T
  hgvsp: ENST00000568454.1:c.4611C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2537C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4578C>T
  hgvsp: ENST00000401874.2:c.4578C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6459
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr1593Tyr
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

16-2136325-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136325
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136325
    reference: chr 16
allele count: 3
allele frequency: 2.519526329050139e-5
allele num: 119070
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4485C>T
  hgvsp: ENST00000439673.2:c.4485C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4665C>T
  hgvsp: ENST00000353929.4:c.4665C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4593C>T
  hgvsp: ENST00000401874.2:c.4593C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.976C>T
  hgvsp: ENST00000569110.1:c.976C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4449C>T
  hgvsp: ENST00000382538.6:c.4449C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1909C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4626C>T
  hgvsp: ENST00000568454.1:c.4626C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3961C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4725C>T
  hgvsp: ENST00000350773.4:c.4725C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4794C>T
  hgvsp: ENST00000219476.3:c.4794C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2552C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24829
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp1598Asp
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

16-2136326-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136326
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136326
    reference: chr 16
allele count: 1
allele frequency: 8.402090440101497e-6
allele num: 119018
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4795G>A
  hgvsp: ENSP00000219476.3:p.Val1599Met
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4486G>A
  hgvsp: ENSP00000399232.2:p.Val1496Met
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4627G>A
  hgvsp: ENSP00000454487.1:p.Val1543Met
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4726G>A
  hgvsp: ENSP00000344383.4:p.Val1576Met
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4594G>A
  hgvsp: ENSP00000384468.2:p.Val1532Met
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4450G>A
  hgvsp: ENSP00000371978.6:p.Val1484Met
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2553G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.977G>A
  hgvsp: ENSP00000455817.1:p.Val327Met
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4666G>A
  hgvsp: ENSP00000248099.4:p.Val1556Met
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3962G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1910G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21787
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val1599Met
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD

16-2136334-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136334
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136334
    reference: chr 16
allele count: 4
allele frequency: 3.37108953613808e-5
allele num: 118656
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.985T>G
  hgvsp: ENST00000569110.1:c.985T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4494T>G
  hgvsp: ENST00000439673.2:c.4494T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4602T>G
  hgvsp: ENST00000401874.2:c.4602T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1918T>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4635T>G
  hgvsp: ENST00000568454.1:c.4635T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4803T>G
  hgvsp: ENST00000219476.3:c.4803T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4674T>G
  hgvsp: ENST00000353929.4:c.4674T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4458T>G
  hgvsp: ENST00000382538.6:c.4458T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4734T>G
  hgvsp: ENST00000350773.4:c.4734T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3970T>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2561T>G
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21429
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6306
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Gly1601Gly
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

16-2136340-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136340
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136340
    reference: chr 16
allele count: 11
allele frequency: 9.301224379354664e-5
allele num: 118264
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2567C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4608C>T
  hgvsp: ENST00000401874.2:c.4608C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4809C>T
  hgvsp: ENST00000219476.3:c.4809C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4680C>T
  hgvsp: ENST00000353929.4:c.4680C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4641C>T
  hgvsp: ENST00000568454.1:c.4641C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3976C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4500C>T
  hgvsp: ENST00000439673.2:c.4500C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4740C>T
  hgvsp: ENST00000350773.4:c.4740C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4464C>T
  hgvsp: ENST00000382538.6:c.4464C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1924C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.991C>T
  hgvsp: ENST00000569110.1:c.991C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24525
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6299
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp1603Asp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD

16-2136341-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136341
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136341
    reference: chr 16
allele count: 1
allele frequency: 8.462241478522831e-6
allele num: 118172
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2568G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4810G>A
  hgvsp: ENSP00000219476.3:p.Gly1604Ser
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.992G>A
  hgvsp: ENSP00000455817.1:p.Gly332Ser
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4741G>A
  hgvsp: ENSP00000344383.4:p.Gly1581Ser
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4465G>A
  hgvsp: ENSP00000371978.6:p.Gly1489Ser
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3977G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4681G>A
  hgvsp: ENSP00000248099.4:p.Gly1561Ser
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4501G>A
  hgvsp: ENSP00000399232.2:p.Gly1501Ser
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4609G>A
  hgvsp: ENSP00000384468.2:p.Gly1537Ser
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1925G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4642G>A
  hgvsp: ENSP00000454487.1:p.Gly1548Ser
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24482
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly1604Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/16-2136343-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136343
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136343
    reference: chr 16
allele count: 1
allele frequency: 8.471417437565653e-6
allele num: 118044
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3979C>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4467C>A
  hgvsp: ENST00000382538.6:c.4467C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4812C>A
  hgvsp: ENST00000219476.3:c.4812C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4503C>A
  hgvsp: ENST00000439673.2:c.4503C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.994C>A
  hgvsp: ENST00000569110.1:c.994C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4743C>A
  hgvsp: ENST00000350773.4:c.4743C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4644C>A
  hgvsp: ENST00000568454.1:c.4644C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4611C>A
  hgvsp: ENST00000401874.2:c.4611C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1927C>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4683C>A
  hgvsp: ENST00000353929.4:c.4683C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2570C>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6256
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly1604Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

16-2136354-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136354
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136354
    reference: chr 16
allele count: 3
allele frequency: 2.571575518601063e-5
allele num: 116660
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4622A>G
  hgvsp: ENSP00000384468.2:p.Tyr1541Cys
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4823A>G
  hgvsp: ENSP00000219476.3:p.Tyr1608Cys
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4478A>G
  hgvsp: ENSP00000371978.6:p.Tyr1493Cys
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4655A>G
  hgvsp: ENSP00000454487.1:p.Tyr1552Cys
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4514A>G
  hgvsp: ENSP00000399232.2:p.Tyr1505Cys
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1938A>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2581A>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4754A>G
  hgvsp: ENSP00000344383.4:p.Tyr1585Cys
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3990A>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.1005A>G
  hgvsp: ENSP00000455817.1:p.Tyr336Cys
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4694A>G
  hgvsp: ENSP00000248099.4:p.Tyr1565Cys
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19892
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6110
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr1608Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

16-2136364-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136364
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136364
    reference: chr 16
allele count: 1
allele frequency: 8.706099493305009e-6
allele num: 114862
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2591C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4524C>T
  hgvsp: ENST00000439673.2:c.4524C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*4000C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4488C>T
  hgvsp: ENST00000382538.6:c.4488C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.1015C>T
  hgvsp: ENST00000569110.1:c.1015C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4632C>T
  hgvsp: ENST00000401874.2:c.4632C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4764C>T
  hgvsp: ENST00000350773.4:c.4764C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4704C>T
  hgvsp: ENST00000353929.4:c.4704C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4833C>T
  hgvsp: ENST00000219476.3:c.4833C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4665C>T
  hgvsp: ENST00000568454.1:c.4665C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1948C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23002
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His1611His
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

16-2136374-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136374
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136374
    reference: chr 16
allele count: 1
allele frequency: 9.028530155290718e-6
allele num: 110760
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*4010A>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4675A>T
  hgvsp: ENSP00000454487.1:p.Met1559Leu
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.1025A>T
  hgvsp: ENSP00000455817.1:p.Met343Leu
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4534A>T
  hgvsp: ENSP00000399232.2:p.Met1512Leu
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4714A>T
  hgvsp: ENSP00000248099.4:p.Met1572Leu
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4843A>T
  hgvsp: ENSP00000219476.3:p.Met1615Leu
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2601A>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4498A>T
  hgvsp: ENSP00000371978.6:p.Met1500Leu
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4642A>T
  hgvsp: ENSP00000384468.2:p.Met1548Leu
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1958A>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4774A>T
  hgvsp: ENSP00000344383.4:p.Met1592Leu
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5580
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4544
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20701
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1615Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

16-2136379-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136379
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136379
    reference: chr 16
allele count: 2
allele frequency: 1.855287569573284e-5
allele num: 107800
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2606A>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.1030A>G
  hgvsp: ENST00000569110.1:c.1030A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4779A>G
  hgvsp: ENST00000350773.4:c.4779A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4719A>G
  hgvsp: ENST00000353929.4:c.4719A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4680A>G
  hgvsp: ENST00000568454.1:c.4680A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4848A>G
  hgvsp: ENST00000219476.3:c.4848A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4647A>G
  hgvsp: ENST00000401874.2:c.4647A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*4015A>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1963A>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4503A>G
  hgvsp: ENST00000382538.6:c.4503A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4539A>G
  hgvsp: ENST00000439673.2:c.4539A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9969
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.4848A>G
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

16-2136384-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136384
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136384
    reference: chr 16
allele count: 6
allele frequency: 5.759815685898051e-5
allele num: 104170
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4849+4C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4720+4C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4504+4C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*4016+4C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2607+4C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4648+4C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4540+4C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4681+4C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1964+4C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.1031+4C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4780+4C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15182
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11074
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4072
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13402
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.4849+4C>T
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

16-2136392-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136392
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136392
    reference: chr 16
allele count: 1
allele frequency: 1.005429318318922e-5
allele num: 99460
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4681+12C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2607+12C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*4016+12C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.1031+12C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4720+12C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4540+12C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4780+12C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4849+12C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4504+12C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4648+12C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1964+12C>G
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9080
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18057
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4361
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8858
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

16-2136392-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136392
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136392
    reference: chr 16
allele count: 8
allele frequency: 8.043434546551378e-5
allele num: 99460
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4504+12C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1964+12C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4849+12C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4780+12C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4720+12C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4681+12C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4540+12C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*4016+12C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.1031+12C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4648+12C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2607+12C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4361
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8858
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10737
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9080
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18057
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-2136393-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136393
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136393
    reference: chr 16
allele count: 7
allele frequency: 7.052044085349882e-5
allele num: 99262
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*4016+13G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4780+13G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4540+13G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4504+13G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1964+13G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4849+13G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4720+13G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2607+13G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.1031+13G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4681+13G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4648+13G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18223
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8864
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2702
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10710
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/16-2136397-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136397
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136398
    reference: chr 16
allele count: 1
allele frequency: 1.031757495718206e-5
allele num: 96922
alternate allele: AC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4648+20dupC
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4849+20dupC
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2607+20dupC
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4540+20dupC
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4780+20dupC
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4504+20dupC
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1964+20dupC
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*4016+20dupC
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4681+20dupC
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4720+20dupC
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.1031+20dupC
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8160
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4704
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9915
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19700
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-2136398-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136398
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136398
    reference: chr 16
allele count: 3
allele frequency: 3.101608701046276e-5
allele num: 96724
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4540+18C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.1031+18C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4681+18C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4780+18C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4849+18C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2607+18C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*4016+18C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1964+18C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4648+18C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4504+18C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4720+18C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8506
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4856
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7905
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

16-2136400-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136400
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136400
    reference: chr 16
allele count: 22
allele frequency: 2.298898618570921e-4
allele num: 95698
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4648+20C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*4016+20C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4780+20C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4849+20C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4681+20C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.1031+20C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1964+20C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2607+20C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4720+20C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4504+20C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4540+20C>G
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7883
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7622
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4966
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20649
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

16-2136400-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136400
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136400
    reference: chr 16
allele count: 2
allele frequency: 2.089907835064474e-5
allele num: 95698
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4540+20C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1964+20C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4504+20C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.1031+20C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4849+20C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4780+20C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2607+20C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4720+20C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4648+20C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*4016+20C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4681+20C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4966
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10398
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20649
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2268
  bin: 3.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum

16-2136401-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136401
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136401
    reference: chr 16
allele count: 1
allele frequency: 1.055342141922411e-5
allele num: 94756
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2607+21G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4720+21G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.1031+21G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1964+21G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4648+21G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*4016+21G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4849+21G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4780+21G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4540+21G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4504+21G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4681+21G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10674
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21070
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2361
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

16-2136405-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136405
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136405
    reference: chr 16
allele count: 1
allele frequency: 1.063875058513128e-5
allele num: 93996
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4540+25C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1964+25C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4648+25C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*4016+25C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4504+25C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4780+25C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4681+25C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4720+25C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2607+25C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4849+25C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.1031+25C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6521
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11099
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21621
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1782
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ

16-2136412-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136412
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136412
    reference: chr 16
allele count: 1
allele frequency: 1.104289058704006e-5
allele num: 90556
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2607+32C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4849+32C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4780+32C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.1031+32C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*4016+32C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4681+32C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4648+32C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1964+32C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4540+32C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4720+32C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4504+32C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12026
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6728
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22438
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS

16-2136421-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136421
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136419
    reference: chr 16
allele count: 2
allele frequency: 2.425771395303707e-5
allele num: 82448
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4720+42_4720+43delAG
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4780+42_4780+43delAG
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4849+42_4849+43delAG
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4648+42_4648+43delAG
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*4016+42_*4016+43delAG
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.1031+42_1031+43delAG
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2607+42_2607+43delAG
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4681+42_4681+43delAG
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4504+42_4504+43delAG
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1964+42_1964+43delAG
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4540+42_4540+43delAG
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20379
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9385
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14811
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6763
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: CAG
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

16-2136428-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136428
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136428
    reference: chr 16
allele count: 8
allele frequency: 1.026193591421022e-4
allele num: 77958
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*4016+48C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4720+48C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4540+48C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4780+48C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4681+48C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2607+48C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1964+48C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4849+48C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.1031+48C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4648+48C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4504+48C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18856
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8933
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16783
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

16-2136429-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136429
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136429
    reference: chr 16
allele count: 1
allele frequency: 1.280967386570338e-5
allele num: 78066
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1964+49G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4681+49G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4648+49G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4540+49G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4504+49G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2607+49G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.1031+49G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*4016+49G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4720+49G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4849+49G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4780+49G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8842
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16872
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3335
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18867
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4697
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

16-2136687-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136687
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136687
    reference: chr 16
allele count: 3
allele frequency: 2.55706517106766e-5
allele num: 117322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.1032-46C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4781-46C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4541-46C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4850-46C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4649-46C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1965-46C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4721-46C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4682-46C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*4017-46C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4505-46C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2608-81C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20637
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16614
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6321
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3908
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

16-2136690-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136690
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136690
    reference: chr 16
allele count: 1
allele frequency: 8.521662064969151e-6
allele num: 117348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1965-43C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4649-43C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4781-43C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4541-43C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4505-43C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4682-43C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4721-43C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*4017-43C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2608-78C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4850-43C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.1032-43C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5466
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20805
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

16-2136693-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136693
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136693
    reference: chr 16
allele count: 1
allele frequency: 8.520790729379687e-6
allele num: 117360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4682-40C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4541-40C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1965-40C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4649-40C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.1032-40C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2608-75C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4505-40C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4721-40C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*4017-40C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4850-40C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4781-40C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4730
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum

16-2136696-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136696
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136696
    reference: chr 16
allele count: 1
allele frequency: 8.514841368505305e-6
allele num: 117442
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4682-37T>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4781-37T>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.1032-37T>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*4017-37T>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4505-37T>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4541-37T>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4850-37T>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1965-37T>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2608-72T>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4721-37T>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4649-37T>C
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6108
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3791
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18920
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1761
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/16-2136699-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136699
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136699
    reference: chr 16
allele count: 1
allele frequency: 8.521952549768203e-6
allele num: 117344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4721-34C>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4649-34C>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4850-34C>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*4017-34C>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4505-34C>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.1032-34C>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1965-34C>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4682-34C>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2608-69C>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4541-34C>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4781-34C>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19100
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3454
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6185
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

16-2136699-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136699
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136699
    reference: chr 16
allele count: 1
allele frequency: 8.521952549768203e-6
allele num: 117344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*4017-34C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4505-34C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2608-69C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4781-34C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4850-34C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1965-34C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.1032-34C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4649-34C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4541-34C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4682-34C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4721-34C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3454
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19100
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2065
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

16-2136701-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136701
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136701
    reference: chr 16
allele count: 4
allele frequency: 3.407155025553662e-5
allele num: 117400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4505-32C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1965-32C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.1032-32C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4721-32C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4682-32C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*4017-32C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4781-32C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4649-32C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4850-32C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2608-67C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4541-32C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19343
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6206
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

16-2136709-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136709
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136709
    reference: chr 16
allele count: 2
allele frequency: 1.701837985023826e-5
allele num: 117520
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4541-24C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2608-59C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.1032-24C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*4017-24C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4682-24C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4781-24C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4850-24C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4505-24C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4721-24C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1965-24C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4649-24C>G
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22054
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6207
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3937
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-2136709-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136709
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136709
    reference: chr 16
allele count: 4
allele frequency: 3.403675970047652e-5
allele num: 117520
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1965-24C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4850-24C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4682-24C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4649-24C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.1032-24C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4541-24C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4505-24C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2608-59C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*4017-24C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4721-24C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4781-24C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22054
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6207
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5904
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-2136714-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2136714
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2136714
    reference: chr 16
allele count: 19
allele frequency: 1.616470988599626e-4
allele num: 117540
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2608-54C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4505-19C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*4017-19C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4721-19C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4682-19C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1965-19C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4781-19C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4850-19C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4541-19C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.1032-19C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4649-19C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22341
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20580
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6273
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 365
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1477
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 2.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1072
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7335
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4553
bin: 9.75e1
variant carriers: 34

GenotypeQuality
all individuals: 287
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1229
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41640
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 22
allele frequency: 3.433529980959515e-4
allele num: 64074
num of homozygotes: 0

Latino
type: Population
allele count: 11
allele frequency: 9.612023767913317e-4
allele num: 11444
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.018329938900204e-4
allele num: 9820
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.65e-1

MQ
type: SiteQuality
SIO_000300: 5.989e1

FS
type: SiteQuality
SIO_000300: 7.34e-1

DP
type: SiteQuality
SIO_000300: 1.664098e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.65e-1

QD
type: SiteQuality
SIO_000300: 1.588e1

VQSLOD
type: SiteQuality
SIO_000300: 3.98e0

GenotypeDepth
all individuals: 513
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 189
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 483
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 979
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1492
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1225
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7376
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4514
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 42380
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.557050323866467e-5
allele num: 64224
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9880
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

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

Latino
type: Population
allele count: 4
allele frequency: 3.487966515521451e-4
allele num: 11468
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.088e0

FS
type: SiteQuality
SIO_000300: 1.043e0

DP
type: SiteQuality
SIO_000300: 1.668954e6

MQRankSum
type: SiteQuality
SIO_000300: -8.8e-1

QD
type: SiteQuality
SIO_000300: 1.263e1

MQ
type: SiteQuality
SIO_000300: 5.955e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e-1

GenotypeQuality
all individuals: 42456
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1494
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 617
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1232
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4512
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 44
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 961
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7387
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9902
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64288
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.324e1

DP
type: SiteQuality
SIO_000300: 1.670949e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.850000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.8e-2

MQ
type: SiteQuality
SIO_000300: 5.952e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

FS
type: SiteQuality
SIO_000300: 2.749e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

GenotypeQuality
all individuals: 183
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1494
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 961
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1232
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42456
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4512
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7387
bin: 6.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.821051353648173e-4
allele num: 16474
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64288
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

FS
type: SiteQuality
SIO_000300: 2.749e0

DP
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MQ
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SIO_000300: 5.952e1

BaseQRankSum
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SIO_000300: 3.3e-2

MQRankSum
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SIO_000300: -5.8e-2

ClippingRankSum
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SIO_000300: -6.850000000000001e-1

VQSLOD
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SIO_000300: 1.17e0

QD
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SIO_000300: 1.324e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.49e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.108486167236556e-5
allele num: 64340
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 3.0e-3

ClippingRankSum
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SIO_000300: 5.5e-2

BaseQRankSum
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DP
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SIO_000300: 1.671973e6

MQRankSum
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SIO_000300: 1.11e0

ReadPosRankSum
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SIO_000300: 3.95e-1

VQSLOD
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FS
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SIO_000300: 8.38e-1

QD
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SIO_000300: 1.219e1

MQ
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SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

South Asian
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allele count: 1
allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64382
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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MQRankSum
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SIO_000300: 7.71e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: 3.7e-3

BaseQRankSum
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MQ
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SIO_000300: 5.884e1

QD
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SIO_000300: 1.074e1

DP
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SIO_000300: 1.673522e6

ClippingRankSum
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SIO_000300: 1.96e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.737e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.21e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.553229163430773e-5
allele num: 64382
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9958
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 7.71e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
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SIO_000300: 1.673522e6

MQ
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SIO_000300: 5.884e1

BaseQRankSum
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VQSLOD
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ReadPosRankSum
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SIO_000300: 8.21e-1

QD
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SIO_000300: 1.074e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.96e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9980
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.703220191470844e-5
allele num: 11490
num of homozygotes: 0

South Asian
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allele count: 6
allele frequency: 3.639451655950503e-4
allele num: 16486
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.551927493947483e-5
allele num: 64436
num of homozygotes: 0

MQRankSum
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SIO_000300: 4.07e-1

InbreedingCoeff
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QD
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FS
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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MQ
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DP
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ReadPosRankSum
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SIO_000300: 5.31e-1

GenotypeDepth
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 6
allele frequency: 9.261546060755742e-5
allele num: 64784
num of homozygotes: 0

African
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allele num: 10056
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Other
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Latino
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allele frequency: 8.691117677733357e-5
allele num: 11506
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European (Finnish)
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allele count: 0
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VQSLOD
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ClippingRankSum
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FS
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InbreedingCoeff
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QD
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BaseQRankSum
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MQRankSum
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MQ
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

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

Other
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num of homozygotes: 0

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

QD
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MQRankSum
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SIO_000300: -9.16e-1

ReadPosRankSum
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SIO_000300: 1.98e0

VQSLOD
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ClippingRankSum
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SIO_000300: -1.56e0

MQ
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SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 4.573e0

BaseQRankSum
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SIO_000300: 4.35e-1

DP
type: SiteQuality
SIO_000300: 1.685415e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65068
num of homozygotes: 0

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

Latino
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allele frequency: 8.676036786395974e-5
allele num: 11526
num of homozygotes: 0

African
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allele frequency: 9.836710603974032e-4
allele num: 10166
num of homozygotes: 0

South Asian
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
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VQSLOD
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SIO_000300: 3.34e0

DP
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FS
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ClippingRankSum
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MQ
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

African
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allele frequency: 9.827044025157233e-5
allele num: 10176
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 13
allele frequency: 1.995824121837387e-4
allele num: 65136
num of homozygotes: 0

Other
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

South Asian
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allele frequency: 6.06060606060606e-5
allele num: 16500
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QD
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SIO_000300: 1.119e1

MQRankSum
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DP
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.69e0

FS
type: SiteQuality
SIO_000300: 1.862e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.47e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65172
num of homozygotes: 0

European (Finnish)
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allele count: 0
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South Asian
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allele num: 16500
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Other
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.757e0

MQ
type: SiteQuality
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VQSLOD
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DP
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ClippingRankSum
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InbreedingCoeff
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QD
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MQRankSum
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SIO_000300: 9.1e-1

BaseQRankSum
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SIO_000300: -2.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65180
num of homozygotes: 0

Latino
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num of homozygotes: 0

Other
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num of homozygotes: 0

African
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South Asian
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East Asian
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European (Finnish)
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DP
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InbreedingCoeff
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ReadPosRankSum
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MQ
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MQRankSum
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FS
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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QD
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GenotypeDepth
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variant carriers: 0

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

East Asian
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allele count: 1
allele frequency: 1.162520344106022e-4
allele num: 8602
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

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

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

European (Non-Finnish)
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InbreedingCoeff
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QD
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ClippingRankSum
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FS
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MQ
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VQSLOD
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ReadPosRankSum
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DP
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BaseQRankSum
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MQRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

South Asian
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Latino
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num of homozygotes: 0

European (Non-Finnish)
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African
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Other
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East Asian
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 1.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

DP
type: SiteQuality
SIO_000300: 1.68933e6

FS
type: SiteQuality
SIO_000300: 1.0748e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.93e-1

QD
type: SiteQuality
SIO_000300: 1.186e1

GenotypeDepth
all individuals: 1010
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variant carriers: 0

GenotypeDepth
all individuals: 82
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variant carriers: 0

GenotypeDepth
all individuals: 784
bin: 4.75e1
variant carriers: 0

GenotypeDepth
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43291
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7578
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4517
bin: 9.75e1
variant carriers: 2

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10210
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.668515950069348e-5
allele num: 11536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531440472908818e-5
allele num: 65298
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.919999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.689922e6

FS
type: SiteQuality
SIO_000300: 5.769e0

QD
type: SiteQuality
SIO_000300: 1.295e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.13e0

MQRankSum
type: SiteQuality
SIO_000300: 6.07e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 48
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

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

GenotypeQuality
all individuals: 415
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.06119325313007e-5
allele num: 65334
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.780907668231612e-5
allele num: 10224
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6566
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: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
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: 3.36e0

DP
type: SiteQuality
SIO_000300: 1.690964e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

FS
type: SiteQuality
SIO_000300: 1.107e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.47e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.187e1

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

GenotypeQuality
all individuals: 348
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 4.890453834115806e-4
allele num: 10224
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65334
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.107e0

VQSLOD
type: SiteQuality
SIO_000300: 3.36e0

QD
type: SiteQuality
SIO_000300: 1.187e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.47e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.690964e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-1

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 294
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variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 5
allele frequency: 4.337265787647467e-4
allele num: 11528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65354
num of homozygotes: 0

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.275e1

DP
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SIO_000300: 1.690616e6

BaseQRankSum
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SIO_000300: -2.583e0

ClippingRankSum
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SIO_000300: 3.21e-1

VQSLOD
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MQRankSum
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MQ
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SIO_000300: 5.925e1

InbreedingCoeff
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SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 3.279e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.99e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65350
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.424830261881668e-4
allele num: 16496
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10214
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.94e-1

BaseQRankSum
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QD
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FS
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
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SIO_000300: 1.73e0

DP
type: SiteQuality
SIO_000300: 1.690621e6

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10214
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.059788262652224e-5
allele num: 65364
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

BaseQRankSum
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VQSLOD
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DP
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ReadPosRankSum
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ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 5.942e1

MQRankSum
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FS
type: SiteQuality
SIO_000300: 1.773e0

QD
type: SiteQuality
SIO_000300: 1.23e1

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 392
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variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65364
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

East Asian
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.56e-1

BaseQRankSum
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MQ
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InbreedingCoeff
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SIO_000300: 2.4e-3

QD
type: SiteQuality
SIO_000300: 1.23e1

DP
type: SiteQuality
SIO_000300: 1.690382e6

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.94e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.003e0

FS
type: SiteQuality
SIO_000300: 1.773e0

GenotypeDepth
all individuals: 91
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 396
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43227
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7567
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10216
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65366
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.676036786395974e-5
allele num: 11526
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.532e0

MQ
type: SiteQuality
SIO_000300: 5.903e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.690364e6

MQRankSum
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SIO_000300: 6.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e-1

QD
type: SiteQuality
SIO_000300: 1.139e1

GenotypeDepth
all individuals: 1008
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529847321237341e-5
allele num: 65366
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10216
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.532e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.6e-2

InbreedingCoeff
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SIO_000300: 2.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.43e-1

QD
type: SiteQuality
SIO_000300: 1.139e1

MQ
type: SiteQuality
SIO_000300: 5.903e1

MQRankSum
type: SiteQuality
SIO_000300: 6.31e-1

DP
type: SiteQuality
SIO_000300: 1.690364e6

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

GenotypeQuality
all individuals: 1261
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1523
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variant carriers: 0

GenotypeQuality
all individuals: 43184
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.676036786395974e-5
allele num: 11526
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529519730804527e-5
allele num: 65380
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10216
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

DP
type: SiteQuality
SIO_000300: 1.690215e6

InbreedingCoeff
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SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: 1.38e0

QD
type: SiteQuality
SIO_000300: 1.026e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.86e0

GenotypeDepth
all individuals: 732
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variant carriers: 0

GenotypeQuality
all individuals: 1508
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1246
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variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65392
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10202
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
SIO_000300: 1.108e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.83e-1

DP
type: SiteQuality
SIO_000300: 1.689839e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.38e-1

FS
type: SiteQuality
SIO_000300: 4.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.65e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4512
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529239050648397e-5
allele num: 65392
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10202
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-1

DP
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 3.3e-3

QD
type: SiteQuality
SIO_000300: 1.108e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.83e-1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.971e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

FS
type: SiteQuality
SIO_000300: 4.54e-1

GenotypeDepth
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.529519730804527e-5
allele num: 65380
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.688708e6

ReadPosRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.925e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4510
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529940944279551e-5
allele num: 65362
num of homozygotes: 0

Other
type: Population
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allele num: 878
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.68726e6

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
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SIO_000300: 1.086e1

BaseQRankSum
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.897e0

ClippingRankSum
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SIO_000300: -4.47e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 7441
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.59080614555916e-5
allele num: 65348
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6444
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.067961165048543e-5
allele num: 16480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

MQRankSum
type: SiteQuality
SIO_000300: -2.51e-1

DP
type: SiteQuality
SIO_000300: 1.687833e6

FS
type: SiteQuality
SIO_000300: 2.589e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-1

QD
type: SiteQuality
SIO_000300: 1.307e1

GenotypeDepth
all individuals: 81
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21761
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 310
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 994
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 122
bin: 2.75e1
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GenotypeQuality
all individuals: 4507
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6380
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.832841691248771e-5
allele num: 10170
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.153e1

FS
type: SiteQuality
SIO_000300: 1.329e0

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.585e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-1

DP
type: SiteQuality
SIO_000300: 1.683998e6

GenotypeDepth
all individuals: 81
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1199
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variant carriers: 0

GenotypeQuality
all individuals: 132
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variant carriers: 0

GenotypeQuality
all individuals: 1012
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 369
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GenotypeQuality
all individuals: 22
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
all individuals: 609
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GenotypeQuality
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GenotypeQuality
all individuals: 4505
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 368
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6316
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.08198515995621e-5
allele num: 16442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10138
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.532895947023116e-5
allele num: 65236
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160900859066636e-4
allele num: 8614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.587e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.73e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.48e-1

DP
type: SiteQuality
SIO_000300: 1.679135e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

QD
type: SiteQuality
SIO_000300: 1.177e1

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

GenotypeQuality
all individuals: 144
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42734
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variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
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GenotypeQuality
all individuals: 606
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variant carriers: 0

GenotypeQuality
all individuals: 7217
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variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 374
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GenotypeQuality
all individuals: 22
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GenotypeQuality
all individuals: 97
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variant carriers: 0

GenotypeQuality
all individuals: 137
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GenotypeQuality
all individuals: 1197
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variant carriers: 0

GenotypeQuality
all individuals: 89
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GenotypeQuality
all individuals: 1412
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1050
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GenotypeQuality
all individuals: 4503
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 136
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6304
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65208
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.729050279329609e-5
allele num: 11456
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10128
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.732e0

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-1

FS
type: SiteQuality
SIO_000300: 5.669999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQ
type: SiteQuality
SIO_000300: 5.958e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.96e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.79e-1

DP
type: SiteQuality
SIO_000300: 1.678422e6

QD
type: SiteQuality
SIO_000300: 1.211e1

GenotypeDepth
all individuals: 91
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 181
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.5e0
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GenotypeQuality
all individuals: 379
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GenotypeQuality
all individuals: 598
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variant carriers: 0

GenotypeQuality
all individuals: 23
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GenotypeQuality
all individuals: 1180
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variant carriers: 0

GenotypeQuality
all individuals: 364
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GenotypeQuality
all individuals: 1391
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GenotypeQuality
all individuals: 113
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GenotypeQuality
all individuals: 277
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GenotypeQuality
all individuals: 7169
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variant carriers: 0

GenotypeQuality
all individuals: 42277
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variant carriers: 0

GenotypeQuality
all individuals: 60
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GenotypeQuality
all individuals: 108
bin: 3.75e1
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GenotypeQuality
all individuals: 180
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
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variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 4.75e1
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GenotypeQuality
all individuals: 1400
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variant carriers: 0

GenotypeQuality
all individuals: 191
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variant carriers: 0

GenotypeQuality
all individuals: 4505
bin: 9.75e1
variant carriers: 4

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.151385599606311e-5
allele num: 65026
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6206
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10096
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-1

QD
type: SiteQuality
SIO_000300: 1.234e1

MQ
type: SiteQuality
SIO_000300: 5.933e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

FS
type: SiteQuality
SIO_000300: 7.105e0

DP
type: SiteQuality
SIO_000300: 1.671523e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.41e-1

GenotypeDepth
all individuals: 310
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
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GenotypeQuality
all individuals: 1765
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variant carriers: 0

GenotypeQuality
all individuals: 4512
bin: 9.75e1
variant carriers: 11

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 140
bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 267
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GenotypeQuality
all individuals: 21
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GenotypeQuality
all individuals: 159
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GenotypeQuality
all individuals: 7054
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1148
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1369
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.388032078963603e-4
allele num: 64840
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.761170492377782e-5
allele num: 11414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10048
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.113964294448521e-5
allele num: 16356
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.14e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.665198e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.08e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.275e1

GenotypeDepth
all individuals: 147
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7041
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variant carriers: 0

GenotypeQuality
all individuals: 138
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GenotypeQuality
all individuals: 360
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GenotypeQuality
all individuals: 29
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4504
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GenotypeQuality
all individuals: 164
bin: 4.75e1
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GenotypeQuality
all individuals: 181
bin: 5.75e1
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GenotypeQuality
all individuals: 1358
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16348
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6116
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.543257507947776e-5
allele num: 64798
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10038
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.663614e6

MQRankSum
type: SiteQuality
SIO_000300: -5.88e-1

FS
type: SiteQuality
SIO_000300: 1.0237e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.909999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

BaseQRankSum
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SIO_000300: -9.429999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.386e1

VQSLOD
type: SiteQuality
SIO_000300: -5.775e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-1

GenotypeDepth
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bin: 7.25e1
variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 378
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GenotypeQuality
all individuals: 255
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GenotypeQuality
all individuals: 156
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.544306143249838e-5
allele num: 64754
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10036
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6082
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
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QD
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FS
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SIO_000300: 0.0e0

VQSLOD
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MQRankSum
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SIO_000300: -1.074e0

MQ
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SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.038e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.76e-1

GenotypeDepth
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.677560184607708e-5
allele num: 64136
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9836
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5862
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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SIO_000300: 1.06e0

FS
type: SiteQuality
SIO_000300: 2.358e0

MQRankSum
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ReadPosRankSum
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SIO_000300: 7.48e-1

QD
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SIO_000300: 1.144e1

DP
type: SiteQuality
SIO_000300: 1.63532e6

BaseQRankSum
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SIO_000300: 1.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63262
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9652
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.199904007679386e-4
allele num: 8334
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11130
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5682
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

InbreedingCoeff
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SIO_000300: -7.0e-4

BaseQRankSum
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SIO_000300: 5.659999999999999e-1

QD
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SIO_000300: 7.2e0

FS
type: SiteQuality
SIO_000300: 8.648e0

ClippingRankSum
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SIO_000300: 4.15e-1

MQ
type: SiteQuality
SIO_000300: 5.861e1

DP
type: SiteQuality
SIO_000300: 1.601226e6

VQSLOD
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SIO_000300: -1.622e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 459
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.258494840171155e-4
allele num: 7946
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61280
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5290
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9264
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.514818e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
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SIO_000300: 1.277e1

ReadPosRankSum
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SIO_000300: 2.57e0

MQRankSum
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SIO_000300: 5.669999999999999e-1

FS
type: SiteQuality
SIO_000300: 3.353e0

BaseQRankSum
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SIO_000300: 3.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e0

VQSLOD
type: SiteQuality
SIO_000300: 2.32e-1

GenotypeDepth
all individuals: 310
bin: 7.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 244
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5026
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15234
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.345824411134904e-5
allele num: 59776
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.62e-1

FS
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SIO_000300: 2.942e0

BaseQRankSum
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ReadPosRankSum
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DP
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SIO_000300: 1.444981e6

VQSLOD
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ClippingRankSum
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QD
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SIO_000300: 1.481e1

InbreedingCoeff
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SIO_000300: -2.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7264
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.01419878296146e-4
allele num: 9860
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.30890052356021e-3
allele num: 764
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 6.91013371108731e-5
allele num: 57886
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14946
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.334e-1

MQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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DP
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FS
type: SiteQuality
SIO_000300: 1.176e1

BaseQRankSum
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SIO_000300: 5.46e-1

ReadPosRankSum
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SIO_000300: 2.4e-2

QD
type: SiteQuality
SIO_000300: 1.144e1

GenotypeDepth
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8336
num of homozygotes: 0

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

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.804793531619983e-5
allele num: 55408
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

MQRankSum
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FS
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VQSLOD
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MQ
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SIO_000300: 6.0e1

InbreedingCoeff
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ReadPosRankSum
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DP
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ClippingRankSum
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SIO_000300: -2.69e-1

QD
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SIO_000300: 1.335e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 8

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
all individuals: 16214
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4276
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9268
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.263355472133988e-4
allele num: 55408
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8336
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.83433570256971e-5
allele num: 14632
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.231558e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

MQRankSum
type: SiteQuality
SIO_000300: 2.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

QD
type: SiteQuality
SIO_000300: 1.335e1

FS
type: SiteQuality
SIO_000300: 6.271e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.69e-1

GenotypeQuality
all individuals: 20034
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4488
bin: 9.75e1
variant carriers: 5

GenotypeQuality
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bin: 9.25e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 9.043226623259179e-5
allele num: 55290
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14594
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9252
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.932551319648094e-4
allele num: 6820
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4256
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.3e-2

FS
type: SiteQuality
SIO_000300: 1.433e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.22695e6

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.827e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

QD
type: SiteQuality
SIO_000300: 8.6e0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 548
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 688
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8988
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4016
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54040
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8158
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.939625260235948e-5
allele num: 14410
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6622
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.342e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

DP
type: SiteQuality
SIO_000300: 1.179631e6

MQ
type: SiteQuality
SIO_000300: 6.016e1

MQRankSum
type: SiteQuality
SIO_000300: -9.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

FS
type: SiteQuality
SIO_000300: 7.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.395e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 191
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2041
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4024
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14386
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8156
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8928
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 696
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 4.557885141294439e-4
allele num: 6582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53952
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.162e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.21e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.57e-1

DP
type: SiteQuality
SIO_000300: 1.164965e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.839e0

GenotypeQuality
all individuals: 4629
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2268
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4505
bin: 9.75e1
variant carriers: 20

GenotypeQuality
all individuals: 501
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 562
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variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 22027
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4832
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 13020
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 699
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variant carriers: 0

GenotypeQuality
all individuals: 227
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GenotypeQuality
all individuals: 516
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1789
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 18
allele frequency: 2.039428959891231e-3
allele num: 8826
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14308
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8058
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3960
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.746581244614289e-5
allele num: 53382
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.898550724637681e-3
allele num: 690
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

DP
type: SiteQuality
SIO_000300: 1.149027e6

QD
type: SiteQuality
SIO_000300: 1.008e1

GenotypeQuality
all individuals: 289
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1987
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4505
bin: 9.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3960
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8058
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 690
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8826
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.746581244614289e-5
allele num: 53382
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14308
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.77e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.48e0

QD
type: SiteQuality
SIO_000300: 1.008e1

DP
type: SiteQuality
SIO_000300: 1.149027e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

MQRankSum
type: SiteQuality
SIO_000300: -2.41e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 483
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 227
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GenotypeQuality
all individuals: 4483
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 1.257229067136032e-4
allele num: 7954
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8692
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14212
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3888
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52912
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 686
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.3e-3

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

BaseQRankSum
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.132661e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.34e0

ClippingRankSum
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SIO_000300: -2.878e0

QD
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SIO_000300: 1.984e1

MQ
type: SiteQuality
SIO_000300: 5.876e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 419
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variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6334
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3808
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14166
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.27000254000508e-4
allele num: 7874
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52524
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 686
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.53e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.84e0

DP
type: SiteQuality
SIO_000300: 1.110052e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.764e0

MQRankSum
type: SiteQuality
SIO_000300: -2.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.6e-3

FS
type: SiteQuality
SIO_000300: 7.207e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 2.052e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2998
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3061
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 461
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variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5950
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.971919861176842e-5
allele num: 50712
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3610
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8220
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13842
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.415e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.253e0

QD
type: SiteQuality
SIO_000300: 7.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.399999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.513e0

MQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

DP
type: SiteQuality
SIO_000300: 1.053501e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 4484
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1310
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.160293799956794e-5
allele num: 46290
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6916
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3072
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13272
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5084
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.706484641638225e-3
allele num: 586
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.87211e5

MQ
type: SiteQuality
SIO_000300: 6.051e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.788e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.12e-2

QD
type: SiteQuality
SIO_000300: 1.715e1

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

FS
type: SiteQuality
SIO_000300: 1.721e0

MQRankSum
type: SiteQuality
SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.94e-1

GenotypeDepth
all individuals: 90
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variant carriers: 0

GenotypeDepth
all individuals: 514
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variant carriers: 1

GenotypeQuality
all individuals: 598
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variant carriers: 0

GenotypeQuality
all individuals: 3008
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variant carriers: 0

GenotypeQuality
all individuals: 5340
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GenotypeQuality
all individuals: 1597
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 948
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4488
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variant carriers: 7

GenotypeQuality
all individuals: 956
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variant carriers: 0

GenotypeQuality
all individuals: 329
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GenotypeQuality
all individuals: 218
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variant carriers: 0

GenotypeQuality
all individuals: 1414
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4632
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.050640634533252e-4
allele num: 6556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6620
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2822
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 9.112862805850458e-5
allele num: 43894
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.552795031055901e-4
allele num: 12880
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

VQSLOD
type: SiteQuality
SIO_000300: 2.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 1.375e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.38e-2

DP
type: SiteQuality
SIO_000300: 9.69827e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 4485
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5323
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1589
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variant carriers: 0

GenotypeQuality
all individuals: 75
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2820
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 554
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.504664459825459e-4
allele num: 6646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43962
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4636
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12886
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.996e0

DP
type: SiteQuality
SIO_000300: 9.68774e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.35e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.28e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1207
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1067
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GenotypeQuality
all individuals: 1764
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10006
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.840490797546012e-4
allele num: 16300
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6078
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64164
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

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

VQSLOD
type: SiteQuality
SIO_000300: 3.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.05e-1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.527701e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.059e0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6072
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.171783454417624e-4
allele num: 8534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10004
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64180
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: -3.97e-1

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

BaseQRankSum
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InbreedingCoeff
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SIO_000300: 1.6e-3

ClippingRankSum
type: SiteQuality
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FS
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.381e0

DP
type: SiteQuality
SIO_000300: 1.532279e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2085
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6092
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9998
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16298
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.557972143458075e-5
allele num: 64186
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.537775e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.031e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 473
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64236
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.642036124794746e-4
allele num: 6090
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16310
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10018
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.096e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.67e-1

DP
type: SiteQuality
SIO_000300: 1.544362e6

QD
type: SiteQuality
SIO_000300: 7.99e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1410
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.644195988161789e-4
allele num: 6082
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64172
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10012
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16306
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.550044e6

VQSLOD
type: SiteQuality
SIO_000300: -8.495e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.493e0

QD
type: SiteQuality
SIO_000300: 6.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16306
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10012
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6082
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.558312036402169e-5
allele num: 64172
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.493e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.550044e6

VQSLOD
type: SiteQuality
SIO_000300: -8.495e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

QD
type: SiteQuality
SIO_000300: 6.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6086
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10022
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16310
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.230141424210329e-5
allele num: 64204
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.39e-1

DP
type: SiteQuality
SIO_000300: 1.554018e6

VQSLOD
type: SiteQuality
SIO_000300: 5.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.57e-1

QD
type: SiteQuality
SIO_000300: 1.303e1

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

GenotypeQuality
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bin: 6.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10034
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16326
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6100
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.344116268166901e-4
allele num: 8532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64268
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.969e1

QD
type: SiteQuality
SIO_000300: 1.077e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.92e-1

FS
type: SiteQuality
SIO_000300: 3.31e0

DP
type: SiteQuality
SIO_000300: 1.56538e6

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.6e-2

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64268
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10034
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6100
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.450079627587897e-4
allele num: 16326
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.56538e6

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

FS
type: SiteQuality
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
type: SiteQuality
SIO_000300: 1.077e1

ReadPosRankSum
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SIO_000300: 2.12e-1

ClippingRankSum
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SIO_000300: -5.6e-2

GenotypeDepth
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bin: 4.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 18

GenotypeQuality
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bin: 6.75e1
variant carriers: 0