16-2100507-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2100507
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2100507
    reference: chr 16
allele count: 1
allele frequency: 8.47371453750466e-6
allele num: 118012
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.225+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.258+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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.330+20C>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.225+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.225+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.225+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.78+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.225+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.225+20C>G
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14236
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4552
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4732
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2863
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2011
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5225
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

16-2100509-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2100509
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2100509
    reference: chr 16
allele count: 1
allele frequency: 8.482051978014521e-6
allele num: 117896
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.225+22A>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.225+22A>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.258+22A>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.225+22A>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.225+22A>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.225+22A>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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.330+22A>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.225+22A>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.78+22A>G
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5076
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4732
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6729
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5803
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2378
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9687
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4655
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

16-2100511-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2100511
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2100511
    reference: chr 16
allele count: 1
allele frequency: 8.493434575073469e-6
allele num: 117738
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.225+24T>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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.330+24T>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.225+24T>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.225+24T>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.225+24T>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.258+24T>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.225+24T>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.225+24T>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.78+24T>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7135
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4732
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4848
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5105
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

16-2100511-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2100511
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2100511
    reference: chr 16
allele count: 1
allele frequency: 8.493434575073469e-6
allele num: 117738
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.78+24T>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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.330+24T>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.225+24T>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.225+24T>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.225+24T>C
  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.258+24T>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.225+24T>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.225+24T>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.225+24T>C
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4732
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22777
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

16-2100511-TAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2100511
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2100509
    reference: chr 16
allele count: 54
allele frequency: 4.586454670539673e-4
allele num: 117738
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.225+31_225+32delAG
  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.78+31_78+32delAG
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.330+31_330+32delAG
  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.258+31_258+32delAG
  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.225+31_225+32delAG
  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.225+31_225+32delAG
  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.225+31_225+32delAG
  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.225+31_225+32delAG
  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.225+31_225+32delAG
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4732
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5724
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 15174
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 7135
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13212
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2635
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3346
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4848
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
reference allele: TAG
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

16-2100515-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2100515
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2100515
    reference: chr 16
allele count: 2
allele frequency: 1.703084285641296e-5
allele num: 117434
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.225+28G>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.225+28G>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.225+28G>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.258+28G>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.78+28G>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.225+28G>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.225+28G>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.225+28G>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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.330+28G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11884
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4732
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7961
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14188
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7215
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3314
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP

16-2100517-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2100517
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2100517
    reference: chr 16
allele count: 1
allele frequency: 8.54627809588924e-6
allele num: 117010
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.225+30G>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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.330+30G>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.225+30G>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.78+30G>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.225+30G>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.258+30G>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.225+30G>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.225+30G>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.225+30G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4732
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5390
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3756
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2241
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/16-2100523-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2100523
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2100523
    reference: chr 16
allele count: 3
allele frequency: 2.575063089045682e-5
allele num: 116502
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.225+36C>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.225+36C>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.78+36C>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.225+36C>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.225+36C>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.225+36C>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.225+36C>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.258+36C>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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.330+36C>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12665
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4732
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10888
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8388
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9479
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2581
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

16-2100523-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2100523
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2100523
    reference: chr 16
allele count: 8
allele frequency: 6.866834904121817e-5
allele num: 116502
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.225+36C>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.258+36C>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.225+36C>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.78+36C>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.225+36C>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.225+36C>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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.330+36C>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.225+36C>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.225+36C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10888
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12665
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4732
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9479
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4173
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9690
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

16-2100525-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2100525
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2100525
    reference: chr 16
allele count: 4
allele frequency: 3.436071882623784e-5
allele num: 116412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.258+38T>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.78+38T>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.225+38T>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.225+38T>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.225+38T>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.225+38T>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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.330+38T>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.225+38T>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.225+38T>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10468
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8421
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10553
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12068
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4870
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4732
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5508
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4802
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

16-2100530-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2100530
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2100530
    reference: chr 16
allele count: 1
allele frequency: 8.632596685082874e-6
allele num: 115840
alternate allele: C
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.225+43T>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.225+43T>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.225+43T>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.225+43T>C
  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.258+43T>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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.330+43T>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.78+43T>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.225+43T>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.225+43T>C
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4732
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10287
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10669
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14729
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1885
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2945
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2715
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD

16-2100538-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2100538
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2100538
    reference: chr 16
allele count: 1
allele frequency: 8.78750065906255e-6
allele num: 113798
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.225+51G>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.225+51G>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.225+51G>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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.330+51G>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.225+51G>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.225+51G>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.258+51G>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.225+51G>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.78+51G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4732
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7986
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12169
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4832
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3362
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5562
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum

16-2103300-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103300
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103300
    reference: chr 16
allele count: 1
allele frequency: 4.738438210765732e-5
allele num: 21104
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.226-997T>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.226-43T>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.226-43T>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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.331-43T>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.226-43T>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.225+2813T>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.79-43T>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.226-43T>C
  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.259-43T>C
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4188
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31748
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4783
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6703
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

16-2103305-G-GAGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103305
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103308
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 21164
alternate allele: GAGC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.226-36_226-34dupGCA
  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.225+2820_225+2822dupGCA
  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.226-36_226-34dupGCA
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.331-36_331-34dupGCA
  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.259-36_259-34dupGCA
  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.226-36_226-34dupGCA
  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.226-36_226-34dupGCA
  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.79-36_79-34dupGCA
  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.226-990_226-988dupGCA
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4199
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16271
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30999
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2746
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS

16-2103307-GCA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103307
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103305
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 21236
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.226-33_226-32delCA
  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.225+2823_225+2824delCA
  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.226-33_226-32delCA
  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.226-33_226-32delCA
  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.226-33_226-32delCA
  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.259-33_259-32delCA
  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.79-33_79-32delCA
  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.226-987_226-986delCA
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.331-33_331-32delCA
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30676
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16667
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2613
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: GCA
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

16-2103311-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103311
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103311
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 21424
alternate allele: G
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.226-986A>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.79-32A>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.226-32A>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.226-32A>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.225+2824A>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.226-32A>G
  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.259-32A>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.226-32A>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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.331-32A>G
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18143
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29433
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12975
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

16-2103319-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103319
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103319
    reference: chr 16
allele count: 3
allele frequency: 1.374633431085044e-4
allele num: 21824
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.79-24C>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.226-978C>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.226-24C>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.226-24C>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.226-24C>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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.331-24C>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.226-24C>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.225+2832C>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.259-24C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25725
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22098
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22816
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3472
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

16-2103320-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103320
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103320
    reference: chr 16
allele count: 2
allele frequency: 9.066183136899366e-5
allele num: 22060
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.259-23G>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.226-977G>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.225+2833G>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.226-23G>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.226-23G>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.226-23G>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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.331-23G>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.226-23G>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.79-23G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23250
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24629
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6572
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

16-2103323-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103323
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103323
    reference: chr 16
allele count: 1
allele frequency: 4.444049417829526e-5
allele num: 22502
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.259-20G>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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.331-20G>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.226-20G>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.226-20G>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.225+2836G>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.226-974G>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.226-20G>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.226-20G>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.79-20G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22504
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25437
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20676
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-2103328-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103328
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103328
    reference: chr 16
allele count: 1
allele frequency: 4.302185510239202e-5
allele num: 23244
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.79-15C>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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.331-15C>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.226-15C>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.226-15C>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.226-15C>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.225+2841C>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.259-15C>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.226-15C>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.226-969C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27902
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19831
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18528
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

16-2103337-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103337
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103337
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 24984
alternate allele: C
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.226-6T>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.225+2850T>C
  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.226-6T>C
  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.226-6T>C
  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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.331-6T>C
  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.79-6T>C
  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.259-6T>C
  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.226-6T>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.226-960T>C
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31390
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15688
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14942
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 2.75e1
  variant carriers: 0
hgvs: c.226-6T>C
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

16-2103343-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103343
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103343
    reference: chr 16
allele count: 12
allele frequency: 4.495055439017081e-4
allele num: 26696
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.226C>T
  hgvsp: ENSP00000248099.4:p.His76Tyr
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.226C>T
  hgvsp: ENSP00000344383.4:p.His76Tyr
  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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.331C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.226C>T
  hgvsp: ENSP00000384468.2:p.His76Tyr
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.226C>T
  hgvsp: ENSP00000219476.3:p.His76Tyr
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.259C>T
  hgvsp: ENSP00000454487.1:p.His87Tyr
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.79C>T
  hgvsp: ENSP00000371978.6:p.His27Tyr
  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.226-2854C>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.226-954C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13101
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33257
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4431
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1758
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
hgvs: p.His76Tyr
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

16-2103345-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103345
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103345
    reference: chr 16
allele count: 189
allele frequency: 6.868231702885384e-3
allele num: 27518
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.333C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.228C>T
  hgvsp: ENST00000401874.2:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  clinical significance: not_provided&benign
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.228C>T
  hgvsp: ENST00000219476.3:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.228C>T
  hgvsp: ENST00000353929.4:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.81C>T
  hgvsp: ENST00000382538.6:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.226-952C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.261C>T
  hgvsp: ENST00000568454.1:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.228C>T
  hgvsp: ENST00000350773.4:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.226-2852C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12228
  bin: 2.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 1.25e1
  variant carriers: 125
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 1.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33708
  bin: 7.5e0
  variant carriers: 122
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.228C>T
num of homozygotes: 1
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

16-2103346-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103346
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103346
    reference: chr 16
allele count: 2
allele frequency: 7.184940364994971e-5
allele num: 27836
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.82G>A
  hgvsp: ENSP00000371978.6:p.Ala28Thr
  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.226-2851G>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.229G>A
  hgvsp: ENSP00000219476.3:p.Ala77Thr
  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.229G>A
  hgvsp: ENSP00000344383.4:p.Ala77Thr
  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.229G>A
  hgvsp: ENSP00000248099.4:p.Ala77Thr
  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.262G>A
  hgvsp: ENSP00000454487.1:p.Ala88Thr
  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.226-951G>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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.334G>A
  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.229G>A
  hgvsp: ENSP00000384468.2:p.Ala77Thr
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11854
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33943
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4476
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7985
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala77Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ

16-2103360-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103360
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103360
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 31140
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.348C>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.276C>G
  hgvsp: ENST00000568454.1:c.276C>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.243C>G
  hgvsp: ENST00000219476.3:c.243C>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.243C>G
  hgvsp: ENST00000350773.4:c.243C>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.243C>G
  hgvsp: ENST00000401874.2:c.243C>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.243C>G
  hgvsp: ENST00000353929.4:c.243C>G(p.%3D)
  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.226-2837C>G
  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.96C>G
  hgvsp: ENST00000382538.6:c.96C>G(p.%3D)
  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.226-937C>G
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 34723
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4569
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9495
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu81Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

16-2103368-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103368
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103368
    reference: chr 16
allele count: 20
allele frequency: 6.173220569170937e-4
allele num: 32398
alternate allele: T
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.251C>T
  hgvsp: ENSP00000384468.2:p.Ala84Val
  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.104C>T
  hgvsp: ENSP00000371978.6:p.Ala35Val
  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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.356C>T
  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.251C>T
  hgvsp: ENSP00000219476.3:p.Ala84Val
  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.284C>T
  hgvsp: ENSP00000454487.1:p.Ala95Val
  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.226-929C>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.226-2829C>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.251C>T
  hgvsp: ENSP00000344383.4:p.Ala84Val
  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.251C>T
  hgvsp: ENSP00000248099.4:p.Ala84Val
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8816
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4840
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 34701
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4539
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8755
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala84Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

16-2103372-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103372
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103372
    reference: chr 16
allele count: 90
allele frequency: 2.688011468848934e-3
allele num: 33482
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.108C>T
  hgvsp: ENST00000382538.6:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.288C>T
  hgvsp: ENST00000568454.1:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  clinical significance: not_provided&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.255C>T
  hgvsp: ENST00000219476.3:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.255C>T
  hgvsp: ENST00000401874.2:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.360C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.226-2825C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.255C>T
  hgvsp: ENST00000353929.4:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.226-925C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.255C>T
  hgvsp: ENST00000350773.4:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 1.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 1.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8427
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4518
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34641
  bin: 7.5e0
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5065
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8388
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val85Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

16-2103375-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103375
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103375
    reference: chr 16
allele count: 11
allele frequency: 3.214118747078074e-4
allele num: 34224
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.258G>A
  hgvsp: ENST00000219476.3:c.258G>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.258G>A
  hgvsp: ENST00000401874.2:c.258G>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.291G>A
  hgvsp: ENST00000568454.1:c.291G>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: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.111G>A
  hgvsp: ENST00000382538.6:c.111G>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.258G>A
  hgvsp: ENST00000353929.4:c.258G>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.258G>A
  hgvsp: ENST00000350773.4:c.258G>A(p.%3D)
  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.226-922G>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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.363G>A
  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.226-2822G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 34539
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5327
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4542
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 8.75e1
  variant carriers: 1
hgvs: p.Ala86Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

16-2103379-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103379
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103379
    reference: chr 16
allele count: 21
allele frequency: 6.049781055542752e-4
allele num: 34712
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.295C>T
  hgvsp: ENST00000568454.1:c.295C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.262C>T
  hgvsp: ENST00000401874.2:c.262C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.367C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.262C>T
  hgvsp: ENST00000350773.4:c.262C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.226-918C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  clinical significance: not_provided&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.262C>T
  hgvsp: ENST00000219476.3:c.262C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.115C>T
  hgvsp: ENST00000382538.6:c.115C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.262C>T
  hgvsp: ENST00000353929.4:c.262C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.226-2818C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4461
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5183
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4504
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8069
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34438
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu88Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD

16-2103387-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103387
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103387
    reference: chr 16
allele count: 2
allele frequency: 5.855486590935707e-5
allele num: 34156
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.375G>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.270G>A
  hgvsp: ENST00000350773.4:c.270G>A(p.%3D)
  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.226-910G>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.226-2810G>A
  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.123G>A
  hgvsp: ENST00000382538.6:c.123G>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.303G>A
  hgvsp: ENST00000568454.1:c.303G>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.270G>A
  hgvsp: ENST00000353929.4:c.270G>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.270G>A
  hgvsp: ENST00000401874.2:c.270G>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.270G>A
  hgvsp: ENST00000219476.3:c.270G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5401
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8501
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4482
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33416
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31297
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln90Gln
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD

16-2103389-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103389
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103389
    reference: chr 16
allele count: 46
allele frequency: 1.325419235866997e-3
allele num: 34706
alternate allele: T
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.272C>T
  hgvsp: ENSP00000384468.2:p.Pro91Leu
  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.125C>T
  hgvsp: ENSP00000371978.6:p.Pro42Leu
  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.272C>T
  hgvsp: ENSP00000219476.3:p.Pro91Leu
  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.272C>T
  hgvsp: ENSP00000248099.4:p.Pro91Leu
  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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.377C>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.226-2808C>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.226-908C>T
  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.305C>T
  hgvsp: ENSP00000454487.1:p.Pro102Leu
  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.272C>T
  hgvsp: ENSP00000344383.4:p.Pro91Leu
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4528
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4560
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8431
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5401
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33481
  bin: 7.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32287
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro91Leu
num of homozygotes: 1
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ

16-2103390-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103390
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103390
    reference: chr 16
allele count: 3
allele frequency: 8.541654803257217e-5
allele num: 35122
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.273G>A
  hgvsp: ENST00000350773.4:c.273G>A(p.%3D)
  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.226-907G>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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.378G>A
  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.273G>A
  hgvsp: ENST00000219476.3:c.273G>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.273G>A
  hgvsp: ENST00000353929.4:c.273G>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.306G>A
  hgvsp: ENST00000568454.1:c.306G>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.273G>A
  hgvsp: ENST00000401874.2:c.273G>A(p.%3D)
  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.226-2807G>A
  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.126G>A
  hgvsp: ENST00000382538.6:c.126G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33531
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4576
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8335
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33262
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro91Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

16-2103392-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103392
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103392
    reference: chr 16
allele count: 69
allele frequency: 1.943442992338891e-3
allele num: 35504
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.226-2805A>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  clinical significance: not_provided&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.275A>T
  hgvsp: ENSP00000219476.3:p.Glu92Val
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.380A>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.275A>T
  hgvsp: ENSP00000248099.4:p.Glu92Val
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.275A>T
  hgvsp: ENSP00000344383.4:p.Glu92Val
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.308A>T
  hgvsp: ENSP00000454487.1:p.Glu103Val
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.275A>T
  hgvsp: ENSP00000384468.2:p.Glu92Val
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.128A>T
  hgvsp: ENSP00000371978.6:p.Glu43Val
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.226-905A>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4602
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 33501
  bin: 7.5e0
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8367
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 1.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5457
  bin: 1.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 4.75e1
  variant carriers: 3
hgvs: p.Glu92Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

16-2103394-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103394
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103394
    reference: chr 16
allele count: 1
allele frequency: 2.836879432624114e-5
allele num: 35250
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.277C>T
  hgvsp: ENSP00000219476.3:p.Arg93Trp
  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.310C>T
  hgvsp: ENSP00000454487.1:p.Arg104Trp
  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.226-903C>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.226-2803C>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.277C>T
  hgvsp: ENSP00000248099.4:p.Arg93Trp
  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.277C>T
  hgvsp: ENSP00000344383.4:p.Arg93Trp
  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.277C>T
  hgvsp: ENSP00000384468.2:p.Arg93Trp
  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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.382C>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.130C>T
  hgvsp: ENSP00000371978.6:p.Arg44Trp
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33376
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5535
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8474
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8462
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg93Trp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

16-2103398-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103398
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103398
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 35048
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.386C>T
  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.314C>T
  hgvsp: ENSP00000454487.1:p.Pro105Leu
  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.226-2799C>T
  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.281C>T
  hgvsp: ENSP00000219476.3:p.Pro94Leu
  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.134C>T
  hgvsp: ENSP00000371978.6:p.Pro45Leu
  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.281C>T
  hgvsp: ENSP00000384468.2:p.Pro94Leu
  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.281C>T
  hgvsp: ENSP00000248099.4:p.Pro94Leu
  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.281C>T
  hgvsp: ENSP00000344383.4:p.Pro94Leu
  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.226-899C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4543
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5590
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33264
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8886
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Pro94Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD

16-2103399-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103399
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103399
    reference: chr 16
allele count: 4
allele frequency: 1.140575990875392e-4
allele num: 35070
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.226-2798G>A
  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.282G>A
  hgvsp: ENST00000401874.2:c.282G>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.282G>A
  hgvsp: ENST00000353929.4:c.282G>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.282G>A
  hgvsp: ENST00000350773.4:c.282G>A(p.%3D)
  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.226-898G>A
  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.282G>A
  hgvsp: ENST00000219476.3:c.282G>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.135G>A
  hgvsp: ENST00000382538.6:c.135G>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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.387G>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.315G>A
  hgvsp: ENST00000568454.1:c.315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33230
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8838
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4553
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro94Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP

16-2103408-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103408
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103408
    reference: chr 16
allele count: 33
allele frequency: 9.749468210824864e-4
allele num: 33848
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.324C>G
  hgvsp: ENST00000568454.1:c.324C>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.291C>G
  hgvsp: ENST00000219476.3:c.291C>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.144C>G
  hgvsp: ENST00000382538.6:c.144C>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.291C>G
  hgvsp: ENST00000350773.4:c.291C>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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.396C>G
  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.291C>G
  hgvsp: ENST00000353929.4:c.291C>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.291C>G
  hgvsp: ENST00000401874.2:c.291C>G(p.%3D)
  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.226-2789C>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.226-889C>G
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10538
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6191
  bin: 1.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 32119
  bin: 7.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2455
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala97Ala
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

16-2103409-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103409
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103409
    reference: chr 16
allele count: 1
allele frequency: 2.992578405554225e-5
allele num: 33416
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.226-2788C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.145C>T
  hgvsp: ENSP00000371978.6:p.Arg49Trp
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.226-888C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.292C>T
  hgvsp: ENSP00000384468.2:p.Arg98Trp
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.292C>T
  hgvsp: ENSP00000219476.3:p.Arg98Trp
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.292C>T
  hgvsp: ENSP00000248099.4:p.Arg98Trp
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.397C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.292C>T
  hgvsp: ENSP00000344383.4:p.Arg98Trp
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.325C>T
  hgvsp: ENSP00000454487.1:p.Arg109Trp
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10747
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31968
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg98Trp
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP

16-2103414-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103414
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103414
    reference: chr 16
allele count: 2
allele frequency: 6.108735491753207e-5
allele num: 32740
alternate allele: T
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.297C>T
  hgvsp: ENST00000401874.2:c.297C>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: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.297C>T
  hgvsp: ENST00000353929.4:c.297C>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.330C>T
  hgvsp: ENST00000568454.1:c.330C>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.297C>T
  hgvsp: ENST00000350773.4:c.297C>T(p.%3D)
  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.226-2783C>T
  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.150C>T
  hgvsp: ENST00000382538.6:c.150C>T(p.%3D)
  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.226-883C>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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.402C>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.297C>T
  hgvsp: ENST00000219476.3:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11781
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31358
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 11869
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His99His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

16-2103415-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103415
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103415
    reference: chr 16
allele count: 3
allele frequency: 9.257544899092761e-5
allele num: 32406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.331G>A
  hgvsp: ENSP00000454487.1:p.Ala111Thr
  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.226-2782G>A
  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.298G>A
  hgvsp: ENSP00000384468.2:p.Ala100Thr
  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.298G>A
  hgvsp: ENSP00000219476.3:p.Ala100Thr
  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.298G>A
  hgvsp: ENSP00000344383.4:p.Ala100Thr
  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.226-882G>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.298G>A
  hgvsp: ENSP00000248099.4:p.Ala100Thr
  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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.403G>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.151G>A
  hgvsp: ENSP00000371978.6:p.Ala51Thr
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12088
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2628
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31582
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala100Thr
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

16-2103416-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103416
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103416
    reference: chr 16
allele count: 3
allele frequency: 9.253547193090685e-5
allele num: 32420
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.226-881C>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.299C>T
  hgvsp: ENSP00000384468.2:p.Ala100Val
  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.299C>T
  hgvsp: ENSP00000219476.3:p.Ala100Val
  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.299C>T
  hgvsp: ENSP00000344383.4:p.Ala100Val
  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.332C>T
  hgvsp: ENSP00000454487.1:p.Ala111Val
  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.226-2781C>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.299C>T
  hgvsp: ENSP00000248099.4:p.Ala100Val
  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.152C>T
  hgvsp: ENSP00000371978.6:p.Ala51Val
  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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.404C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6265
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31197
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12095
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2342
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31876
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala100Val
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum

16-2103417-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103417
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103417
    reference: chr 16
allele count: 10
allele frequency: 3.106554830692762e-4
allele num: 32190
alternate allele: A
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.226-880G>A
  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.300G>A
  hgvsp: ENST00000401874.2:c.300G>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.300G>A
  hgvsp: ENST00000350773.4:c.300G>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.300G>A
  hgvsp: ENST00000219476.3:c.300G>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.300G>A
  hgvsp: ENST00000353929.4:c.300G>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.333G>A
  hgvsp: ENST00000568454.1:c.333G>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: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.153G>A
  hgvsp: ENST00000382538.6:c.153G>A(p.%3D)
  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.226-2780G>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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.405G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31039
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3095
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6283
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala100Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

16-2103435-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103435
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103435
    reference: chr 16
allele count: 1
allele frequency: 3.347616497054097e-5
allele num: 29872
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.423G>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.351G>A
  hgvsp: ENST00000568454.1:c.351G>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.318G>A
  hgvsp: ENST00000219476.3:c.318G>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.171G>A
  hgvsp: ENST00000382538.6:c.171G>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.318G>A
  hgvsp: ENST00000401874.2:c.318G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000387937
  ensembl transcript: ENST00000432909
  gene symbol: TSC2
  hgvsc: ENST00000432909.2:c.2G>A
  hgvsp: ENST00000432909.2:c.2G>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.318G>A
  hgvsp: ENST00000350773.4:c.318G>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.318G>A
  hgvsp: ENST00000353929.4:c.318G>A(p.%3D)
  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.226-862G>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.226-2762G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6114
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17217
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28225
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys106Lys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

16-2103442-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103442
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103442
    reference: chr 16
allele count: 1
allele frequency: 3.518153672952434e-5
allele num: 28424
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.358G>A
  hgvsp: ENSP00000454487.1:p.Val120Met
  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.226-2755G>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.226-855G>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.325G>A
  hgvsp: ENSP00000248099.4:p.Val109Met
  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.178G>A
  hgvsp: ENSP00000371978.6:p.Val60Met
  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.325G>A
  hgvsp: ENSP00000219476.3:p.Val109Met
  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.325G>A
  hgvsp: ENSP00000344383.4:p.Val109Met
  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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.430G>A
  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.325G>A
  hgvsp: ENSP00000384468.2:p.Val109Met
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000387937
  ensembl transcript: ENST00000432909
  gene symbol: TSC2
  hgvsc: ENST00000432909.2:c.9G>A
  hgvsp: ENSP00000387937.2:p.Val4Met
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24583
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5824
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val109Met
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ

16-2103444-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103444
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103444
    reference: chr 16
allele count: 1
allele frequency: 3.605162592832937e-5
allele num: 27738
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.180G>A
  hgvsp: ENST00000382538.6:c.180G>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.327G>A
  hgvsp: ENST00000350773.4:c.327G>A(p.%3D)
  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.226-853G>A
  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.327G>A
  hgvsp: ENST00000401874.2:c.327G>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.327G>A
  hgvsp: ENST00000353929.4:c.327G>A(p.%3D)
  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.226-2753G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000387937
  ensembl transcript: ENST00000432909
  gene symbol: TSC2
  hgvsc: ENST00000432909.2:c.11G>A
  hgvsp: ENST00000432909.2:c.11G>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.360G>A
  hgvsp: ENST00000568454.1:c.360G>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.327G>A
  hgvsp: ENST00000219476.3:c.327G>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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.432G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5685
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21477
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2305
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val109Val
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: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ

16-2103451-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103451
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103451
    reference: chr 16
allele count: 1
allele frequency: 3.874467260751646e-5
allele num: 25810
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000387937
  ensembl transcript: ENST00000432909
  gene symbol: TSC2
  hgvsc: ENST00000432909.2:c.18C>G
  hgvsp: ENSP00000387937.2:p.Gln7Glu
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.367C>G
  hgvsp: ENSP00000454487.1:p.Gln123Glu
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.334C>G
  hgvsp: ENSP00000219476.3:p.Gln112Glu
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.334C>G
  hgvsp: ENSP00000248099.4:p.Gln112Glu
  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.226-2746C>G
  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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.439C>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.226-846C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.187C>G
  hgvsp: ENSP00000371978.6:p.Gln63Glu
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.334C>G
  hgvsp: ENSP00000384468.2:p.Gln112Glu
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.334C>G
  hgvsp: ENSP00000344383.4:p.Gln112Glu
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20797
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24614
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln112Glu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

16-2103461-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103461
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103461
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 21890
alternate allele: T
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.336+8C>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.226-836C>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.369+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.336+8C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000387937
  ensembl transcript: ENST00000432909
  gene symbol: TSC2
  hgvsc: ENST00000432909.2:c.28C>T
  hgvsp: ENSP00000387937.2:p.Pro10Leu
  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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.449C>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.336+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.336+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.189+8C>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.226-2736C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30750
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15130
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2097
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro10Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

16-2103463-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103463
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103463
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 21270
alternate allele: G
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.226-2734A>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.189+10A>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.336+10A>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000387937
  ensembl transcript: ENST00000432909
  gene symbol: TSC2
  hgvsc: ENST00000432909.2:c.30A>G
  hgvsp: ENSP00000387937.2:p.Arg11Gly
  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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.451A>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.369+10A>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.336+10A>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.226-834A>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.336+10A>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.336+10A>G
  variant of: http://identifiers.org/hgnc/12363
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3784
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14451
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31503
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg11Gly
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

16-2103467-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103467
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103467
    reference: chr 16
allele count: 2
allele frequency: 1.024485196188915e-4
allele num: 19522
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.455C>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.336+14C>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.369+14C>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.336+14C>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.226-2730C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000387937
  ensembl transcript: ENST00000432909
  gene symbol: TSC2
  hgvsc: ENST00000432909.2:c.34C>T
  hgvsp: ENSP00000387937.2:p.Ala12Val
  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.336+14C>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.189+14C>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.226-830C>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.336+14C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33018
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala12Val
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD

16-2103468-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103468
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103468
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 19292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.336+15G>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.369+15G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000387937
  ensembl transcript: ENST00000432909
  gene symbol: TSC2
  hgvsc: ENST00000432909.2:c.35G>A
  hgvsp: ENST00000432909.2:c.35G>A(p.%3D)
  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.189+15G>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.336+15G>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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.456G>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.226-2729G>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.226-829G>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.336+15G>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.336+15G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33366
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12901
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11028
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala12Ala
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

16-2103485-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103485
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103485
    reference: chr 16
allele count: 95
allele frequency: 5.915317559153176e-3
allele num: 16060
alternate allele: T
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.369+32C>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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.473C>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.336+32C>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.336+32C>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.336+32C>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.226-2712C>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.336+32C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000387937
  ensembl transcript: ENST00000432909
  gene symbol: TSC2
  hgvsc: ENST00000432909.2:c.52C>T
  hgvsp: ENSP00000387937.2:p.Thr18Met
  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.189+32C>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.226-812C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 2.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 35795
  bin: 2.5e0
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 1.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 7246
  bin: 7.5e0
  variant carriers: 130
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 2.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 1.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 1.75e1
  variant carriers: 14
hgvs: p.Thr18Met
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

16-2103486-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103486
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103486
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 16048
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.474G>A
  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.336+33G>A
  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.226-2711G>A
  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.226-811G>A
  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.336+33G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000387937
  ensembl transcript: ENST00000432909
  gene symbol: TSC2
  hgvsc: ENST00000432909.2:c.53G>A
  hgvsp: ENST00000432909.2:c.53G>A(p.%3D)
  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.369+33G>A
  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.189+33G>A
  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.336+33G>A
  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.336+33G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: false
consequence: synonymous
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7052
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6137
  bin: 2.25e1
  variant carriers: 1
hgvs: p.Thr18Thr
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

16-2103486-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103486
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103486
    reference: chr 16
allele count: 98
allele frequency: 6.106679960119641e-3
allele num: 16048
alternate allele: T
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.336+33G>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.336+33G>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.226-811G>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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.474G>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.189+33G>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000387937
  ensembl transcript: ENST00000432909
  gene symbol: TSC2
  hgvsc: ENST00000432909.2:c.53G>T
  hgvsp: ENST00000432909.2:c.53G>T(p.%3D)
  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.369+33G>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.226-2711G>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.336+33G>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.336+33G>T
  variant of: http://identifiers.org/hgnc/12363
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 1.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 2.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 1.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 36103
  bin: 2.5e0
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7052
  bin: 7.5e0
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 7.25e1
  variant carriers: 3
hgvs: p.Thr18Thr
num of homozygotes: 1
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

16-2103487-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103487
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103487
    reference: chr 16
allele count: 1
allele frequency: 6.271951831409934e-5
allele num: 15944
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.336+34T>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.336+34T>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.336+34T>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.336+34T>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.189+34T>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000387937
  ensembl transcript: ENST00000432909
  gene symbol: TSC2
  hgvsc: ENST00000432909.2:c.54T>G
  hgvsp: ENSP00000387937.2:p.Ser19Ala
  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.369+34T>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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.475T>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.226-810T>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.226-2710T>G
  variant of: http://identifiers.org/hgnc/12363
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36261
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6818
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2397
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser19Ala
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

16-2103492-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103492
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103492
    reference: chr 16
allele count: 1
allele frequency: 6.534239414532148e-5
allele num: 15304
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.189+39C>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.336+39C>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.336+39C>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.336+39C>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.369+39C>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.226-2705C>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.336+39C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000387937
  ensembl transcript: ENST00000432909
  gene symbol: TSC2
  hgvsc: ENST00000432909.2:c.59C>G
  hgvsp: ENST00000432909.2:c.59C>G(p.%3D)
  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.226-805C>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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.480C>G
  variant of: http://identifiers.org/hgnc/12363
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35857
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly20Gly
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/16-2103495-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103495
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103495
    reference: chr 16
allele count: 1
allele frequency: 6.614631565021828e-5
allele num: 15118
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000387937
  ensembl transcript: ENST00000432909
  gene symbol: TSC2
  hgvsc: ENST00000432909.2:c.62C>A
  hgvsp: ENSP00000387937.2:p.Cys21Ter
  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.336+42C>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.336+42C>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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.483C>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.189+42C>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.226-802C>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.336+42C>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.336+42C>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.369+42C>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.226-2702C>A
  variant of: http://identifiers.org/hgnc/12363
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5465
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35531
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Cys21Ter
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ

16-2103496-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103496
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103496
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 15114
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.226-2701C>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.336+43C>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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.484C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000387937
  ensembl transcript: ENST00000432909
  gene symbol: TSC2
  hgvsc: ENST00000432909.2:c.63C>T
  hgvsp: ENSP00000387937.2:p.Pro22Ser
  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.189+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.336+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.226-801C>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.369+43C>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.336+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.336+43C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35348
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5337
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33575
  bin: 7.5e0
  variant carriers: 1
hgvs: p.Pro22Ser
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD

16-2103511-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103511
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103511
    reference: chr 16
allele count: 1
allele frequency: 7.226477814713109e-5
allele num: 13838
alternate allele: C
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.226-2686T>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.336+58T>C
  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.369+58T>C
  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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.499T>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.336+58T>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.189+58T>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000387937
  ensembl transcript: ENST00000432909
  gene symbol: TSC2
  hgvsc: ENST00000432909.2:c.78T>C
  hgvsp: ENSP00000387937.2:p.Ser27Pro
  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.336+58T>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.336+58T>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.226-786T>C
  variant of: http://identifiers.org/hgnc/12363
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31385
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3954
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29507
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser27Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/16-2103512-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103512
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103512
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 13472
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.369+59C>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000387937
  ensembl transcript: ENST00000432909
  gene symbol: TSC2
  hgvsc: ENST00000432909.2:c.79C>A
  hgvsp: ENSP00000387937.2:p.Ser27Tyr
  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.336+59C>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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.500C>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.336+59C>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.226-2685C>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.336+59C>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.336+59C>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.226-785C>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.189+59C>A
  variant of: http://identifiers.org/hgnc/12363
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30045
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4100
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser27Tyr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP

16-2103514-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103514
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103514
    reference: chr 16
allele count: 1
allele frequency: 7.411799584939223e-5
allele num: 13492
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.502C>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.189+61C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000387937
  ensembl transcript: ENST00000432909
  gene symbol: TSC2
  hgvsc: ENST00000432909.2:c.81C>T
  hgvsp: ENST00000432909.2:c.81C>T(p.%3D)
  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.336+61C>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.336+61C>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.369+61C>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.336+61C>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.226-2683C>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.226-783C>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.336+61C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3767
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30162
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu28Leu
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

16-2103525-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103525
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103525
    reference: chr 16
allele count: 1
allele frequency: 7.756748371082842e-5
allele num: 12892
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.513T>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.336+72T>C
  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.369+72T>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.336+72T>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.189+72T>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000387937
  ensembl transcript: ENST00000432909
  gene symbol: TSC2
  hgvsc: ENST00000432909.2:c.92T>C
  hgvsp: ENST00000432909.2:c.92T>C(p.%3D)
  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.336+72T>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.226-2672T>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.226-772T>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.336+72T>C
  variant of: http://identifiers.org/hgnc/12363
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3461
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26676
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4290
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg31Arg
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

16-2103536-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103536
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103536
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 11970
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.524C>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.226-2661C>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.336+83C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000387937
  ensembl transcript: ENST00000432909
  gene symbol: TSC2
  hgvsc: ENST00000432909.2:c.103C>G
  hgvsp: ENSP00000387937.2:p.Pro35Arg
  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.336+83C>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.226-761C>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.369+83C>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.336+83C>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.336+83C>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.189+83C>G
  variant of: http://identifiers.org/hgnc/12363
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21900
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2105
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro35Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: QD

16-2103542-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103542
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103542
    reference: chr 16
allele count: 3
allele frequency: 2.610511660285416e-4
allele num: 11492
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.336+89C>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.226-2655C>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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.530C>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.189+89C>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.336+89C>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.336+89C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000387937
  ensembl transcript: ENST00000432909
  gene symbol: TSC2
  hgvsc: ENST00000432909.2:c.109C>T
  hgvsp: ENSP00000387937.2:p.Ser37Leu
  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.226-755C>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.336+89C>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.369+89C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19474
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser37Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

16-2103543-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103543
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103543
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 11570
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.336+90G>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.369+90G>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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.531G>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.189+90G>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.226-2654G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000387937
  ensembl transcript: ENST00000432909
  gene symbol: TSC2
  hgvsc: ENST00000432909.2:c.110G>A
  hgvsp: ENST00000432909.2:c.110G>A(p.%3D)
  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.336+90G>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.336+90G>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.226-754G>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.336+90G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: false
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19549
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 1.25e1
  variant carriers: 1
hgvs: c.110G>A
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP

16-2103552-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103552
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103552
    reference: chr 16
allele count: 1
allele frequency: 8.920606601248885e-5
allele num: 11210
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000387937
  ensembl transcript: ENST00000432909
  gene symbol: TSC2
  hgvsc: ENST00000432909.2:c.110+9C>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.336+99C>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.336+99C>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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.540C>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.336+99C>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.189+99C>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.369+99C>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.226-745C>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.336+99C>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.226-2645C>G
  variant of: http://identifiers.org/hgnc/12363
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16814
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3680
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

16-2103563-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103563
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103563
    reference: chr 16
allele count: 1
allele frequency: 9.077705156136529e-5
allele num: 11016
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.336+110G>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.226-2634G>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000387937
  ensembl transcript: ENST00000432909
  gene symbol: TSC2
  hgvsc: ENST00000432909.2:c.110+20G>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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.551G>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.369+110G>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.336+110G>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.336+110G>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.189+110G>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.226-734G>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.336+110G>T
  variant of: http://identifiers.org/hgnc/12363
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13802
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

16-2103647-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103647
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103647
    reference: chr 16
allele count: 1
allele frequency: 9.057971014492754e-5
allele num: 11040
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.336+194C>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.189+194C>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.226-2550C>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.336+194C>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.336+194C>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.369+194C>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.226-650C>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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.635C>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.336+194C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000387937
  ensembl transcript: ENST00000432909
  gene symbol: TSC2
  hgvsc: ENST00000432909.2:c.110+104C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5990
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

16-2103650-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103650
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103650
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 11018
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.336+197C>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.369+197C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000387937
  ensembl transcript: ENST00000432909
  gene symbol: TSC2
  hgvsc: ENST00000432909.2:c.110+107C>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.336+197C>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.189+197C>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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.638C>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.226-647C>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.336+197C>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.226-2547C>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.336+197C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5871
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/16-2103668-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103668
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103669
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 10964
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.336+216dupA
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000387937
  ensembl transcript: ENST00000432909
  gene symbol: TSC2
  hgvsc: ENST00000432909.2:c.110+126dupA
  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.369+216dupA
  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.336+216dupA
  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.226-628dupA
  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.336+216dupA
  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.336+216dupA
  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.189+216dupA
  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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.657dupA
  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.226-2528dupA
  variant of: http://identifiers.org/hgnc/12363
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5629
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

16-2103686-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2103686
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2103686
    reference: chr 16
allele count: 34
allele frequency: 3.116978364503117e-3
allele num: 10908
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000387937
  ensembl transcript: ENST00000432909
  gene symbol: TSC2
  hgvsc: ENST00000432909.2:c.110+143T>C
  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.336+233T>C
  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.336+233T>C
  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.226-611T>C
  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.369+233T>C
  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.226-2511T>C
  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: ENST00000461648
  gene symbol: TSC2
  hgvsc: ENST00000461648.2:n.674T>C
  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.336+233T>C
  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.189+233T>C
  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.336+233T>C
  variant of: http://identifiers.org/hgnc/12363
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 24634
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 812
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2122
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 940
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 760
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 902
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1658
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9688
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4448
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1320
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10062
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.89521437466643e-5
allele num: 11242
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64726
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16200
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8346
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

QD
type: SiteQuality
SIO_000300: 7.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.47e-1

MQ
type: SiteQuality
SIO_000300: 5.799e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.276e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.12e0

DP
type: SiteQuality
SIO_000300: 2.086533e6

GenotypeQuality
all individuals: 1881
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23526
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2005
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3095
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 812
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5192
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 964
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1317
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 848
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1036
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8328
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10064
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.903133903133904e-5
allele num: 11232
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16200
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.36e0

QD
type: SiteQuality
SIO_000300: 8.5e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.462e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.47e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 2.07606e6

GenotypeQuality
all individuals: 2635
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1623
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3346
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22777
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 875
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 812
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2013
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 957
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9740
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1185
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8298
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16166
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.548083472660846e-5
allele num: 64596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11202
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: 884
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-2

DP
type: SiteQuality
SIO_000300: 2.065773e6

QD
type: SiteQuality
SIO_000300: 1.581e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

GenotypeQuality
all individuals: 875
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9740
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3346
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 957
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1623
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2013
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4848
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1991
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5105
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2635
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1310
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 812
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64596
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8298
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.185822095756526e-5
allele num: 16166
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

DP
type: SiteQuality
SIO_000300: 2.065773e6

MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-2

QD
type: SiteQuality
SIO_000300: 1.581e1

GenotypeQuality
all individuals: 311
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1623
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1185
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22777
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9740
bin: 9.75e1
variant carriers: 54

GenotypeQuality
all individuals: 875
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2013
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 957
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5105
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 812
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1991
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8298
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 52
allele frequency: 8.050034057836399e-4
allele num: 64596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16166
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.528117359413203e-4
allele num: 6544
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.952229299363058e-5
allele num: 10048
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11202
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

QD
type: SiteQuality
SIO_000300: 1.581e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-2

DP
type: SiteQuality
SIO_000300: 2.065773e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1969
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9686
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 361
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5234
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2321
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1304
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4005
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1665
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4857
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19704
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8254
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.104433130510369e-5
allele num: 64424
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11174
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10008
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16156
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

QD
type: SiteQuality
SIO_000300: 1.372e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

MQRankSum
type: SiteQuality
SIO_000300: -1.044e0

FS
type: SiteQuality
SIO_000300: 6.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

DP
type: SiteQuality
SIO_000300: 2.040688e6

GenotypeQuality
all individuals: 1936
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9685
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2460
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4371
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1934
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4264
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5297
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1512
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17113
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1441
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.55671098103926e-5
allele num: 64238
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9964
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16098
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8168
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.556e0

MQRankSum
type: SiteQuality
SIO_000300: 2.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.62e-1

DP
type: SiteQuality
SIO_000300: 2.026906e6

QD
type: SiteQuality
SIO_000300: 9.050000000000001e0

FS
type: SiteQuality
SIO_000300: 2.524e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

GenotypeQuality
all individuals: 1901
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1583
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4639
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1717
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5460
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4191
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4173
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9690
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 18305
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1484
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.69013820273904e-5
allele num: 63964
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8104
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16050
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11048
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9952
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-2

FS
type: SiteQuality
SIO_000300: 3.073e0

MQRankSum
type: SiteQuality
SIO_000300: -7.4e-2

DP
type: SiteQuality
SIO_000300: 2.008351e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.389999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-2

QD
type: SiteQuality
SIO_000300: 1.472e1

GenotypeQuality
all individuals: 1484
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1901
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1717
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4639
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1289
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4191
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18305
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.69013820273904e-5
allele num: 63964
num of homozygotes: 0

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

East Asian
type: Population
allele count: 5
allele frequency: 6.169792694965449e-4
allele num: 8104
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11048
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16050
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9952
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.472e1

VQSLOD
type: SiteQuality
SIO_000300: 9.389999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.008351e6

FS
type: SiteQuality
SIO_000300: 3.073e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.47e0

MQRankSum
type: SiteQuality
SIO_000300: -7.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-2

GenotypeQuality
all individuals: 322
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1880
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 766
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2642
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4148
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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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variant carriers: 0

GenotypeQuality
all individuals: 1897
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9684
bin: 9.75e1
variant carriers: 4

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.693807303564165e-5
allele num: 63914
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9940
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8078
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.056330374932077e-5
allele num: 11042
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16042
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 1.996761e6

QD
type: SiteQuality
SIO_000300: 1.351e1

VQSLOD
type: SiteQuality
SIO_000300: 3.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.13e-1

FS
type: SiteQuality
SIO_000300: 9.379999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.38e-1

GenotypeQuality
all individuals: 107
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5343
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 612
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variant carriers: 0

GenotypeQuality
all individuals: 1278
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
all individuals: 9683
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2308
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15996
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7990
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.008267795926598e-4
allele num: 9918
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10982
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63584
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.972572e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.61e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.45e0

QD
type: SiteQuality
SIO_000300: 1.655e1

GenotypeQuality
all individuals: 812
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1450
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4978
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1840
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variant carriers: 0

GenotypeQuality
all individuals: 6434
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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: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9679
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variant carriers: 1

GenotypeQuality
all individuals: 2277
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1275
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2811
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10740
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7836
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: 9712
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.603489192482843e-5
allele num: 62364
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.98e0

VQSLOD
type: SiteQuality
SIO_000300: 1.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.429e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.57e-1

QD
type: SiteQuality
SIO_000300: 1.077e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.952972e6

MQRankSum
type: SiteQuality
SIO_000300: 5.31e-1

GenotypeQuality
all individuals: 24155
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6100
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3339
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variant carriers: 0

GenotypeQuality
all individuals: 110
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 68
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GenotypeQuality
all individuals: 23
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GenotypeQuality
all individuals: 8318
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1486
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variant carriers: 0

GenotypeQuality
all individuals: 39
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variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.121830827911151e-4
allele num: 8914
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7970
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2656
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.109e0

VQSLOD
type: SiteQuality
SIO_000300: -5.387e-1

FS
type: SiteQuality
SIO_000300: 7.494e0

QD
type: SiteQuality
SIO_000300: 9.539999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.24e-2

DP
type: SiteQuality
SIO_000300: 4.5416e5

GenotypeQuality
all individuals: 3862
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1500
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24636
bin: 7.5e0
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GenotypeQuality
all individuals: 54
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 10243
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 301
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6210
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6057
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8968
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2656
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7968
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.038e1

DP
type: SiteQuality
SIO_000300: 4.62493e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.13e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 5.566e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 6256
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5828
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3685
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24665
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 94
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10841
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1494
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 300
bin: 7.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7976
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2664
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9022
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 496
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.22e-1

DP
type: SiteQuality
SIO_000300: 4.65754e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.08e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

QD
type: SiteQuality
SIO_000300: 2.157e1

GenotypeQuality
all individuals: 637
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24592
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3271
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1971
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6324
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1494
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5089
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 100
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9118
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2684
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 510
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7990
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 126
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.1e1

DP
type: SiteQuality
SIO_000300: 4.76639e5

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.86e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.589e0

VQSLOD
type: SiteQuality
SIO_000300: 3.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 303
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18378
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6479
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1488
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2179
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 371
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1494
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 534
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 144
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9380
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2724
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.743448964312453e-4
allele num: 8014
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.84e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e0

VQSLOD
type: SiteQuality
SIO_000300: -8.788e-1

DP
type: SiteQuality
SIO_000300: 5.03032e5

FS
type: SiteQuality
SIO_000300: 5.223e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.36e-1

QD
type: SiteQuality
SIO_000300: 1.154e1

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.48e-2

GenotypeQuality
all individuals: 304
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3101
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1493
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19904
bin: 2.25e1
variant carriers: 1

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

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 372
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.103934357248054e-4
allele num: 9506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 144
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2752
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8030
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

QD
type: SiteQuality
SIO_000300: 9.220000000000001e0

FS
type: SiteQuality
SIO_000300: 4.904e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.8e-1

DP
type: SiteQuality
SIO_000300: 5.10352e5

MQRankSum
type: SiteQuality
SIO_000300: -2.15e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.33e-2

GenotypeQuality
all individuals: 302
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 1508
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 916
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8036
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 596
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 160
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2792
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.020616452337212e-4
allele num: 9798
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.95e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.07e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.104e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.96e0

FS
type: SiteQuality
SIO_000300: 4.396e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.92e-1

DP
type: SiteQuality
SIO_000300: 5.24834e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.21e-1

GenotypeQuality
all individuals: 77
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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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variant carriers: 0

GenotypeQuality
all individuals: 374
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GenotypeQuality
all individuals: 22
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2866
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 646
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1030
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8078
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.784735812133073e-5
allele num: 10220
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.42882e5

MQRankSum
type: SiteQuality
SIO_000300: 2.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.853e0

FS
type: SiteQuality
SIO_000300: 2.58e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.59e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.3e-1

QD
type: SiteQuality
SIO_000300: 7.46e0

GenotypeQuality
all individuals: 375
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 2.5e0
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GenotypeQuality
all individuals: 295
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
all individuals: 2162
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
all individuals: 640
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 132
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variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8168
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 248
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11292
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1228
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3010
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.99e-2

DP
type: SiteQuality
SIO_000300: 5.74114e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.159e0

VQSLOD
type: SiteQuality
SIO_000300: -3.184e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.652e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

QD
type: SiteQuality
SIO_000300: 1.069e1

GenotypeQuality
all individuals: 26
bin: 9.25e1
variant carriers: 4

GenotypeQuality
all individuals: 374
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 4.25e1
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GenotypeQuality
all individuals: 7713
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 62
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12578
bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
all individuals: 108
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1535
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 872
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1031
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 672
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 9.75e1
variant carriers: 13

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
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GenotypeQuality
all individuals: 306
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 12
allele frequency: 1.452784503631961e-3
allele num: 8260
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3140
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 296
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12392
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 940
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1434
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.62e-1

FS
type: SiteQuality
SIO_000300: 1.139e0

DP
type: SiteQuality
SIO_000300: 5.98401e5

QD
type: SiteQuality
SIO_000300: 1.023e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.537e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.51e-2

GenotypeQuality
all individuals: 287
bin: 3.75e1
variant carriers: 6

GenotypeQuality
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bin: 3.25e1
variant carriers: 6

GenotypeQuality
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bin: 5.75e1
variant carriers: 9

GenotypeQuality
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bin: 6.25e1
variant carriers: 17

GenotypeQuality
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bin: 2.75e1
variant carriers: 6

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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variant carriers: 10

GenotypeQuality
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bin: 9.25e1
variant carriers: 10

GenotypeQuality
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GenotypeQuality
all individuals: 1554
bin: 6.75e1
variant carriers: 14

GenotypeQuality
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bin: 1.75e1
variant carriers: 3

GenotypeQuality
all individuals: 980
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 121
bin: 8.25e1
variant carriers: 15

GenotypeQuality
all individuals: 136
bin: 4.75e1
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GenotypeQuality
all individuals: 32059
bin: 2.25e1
variant carriers: 7

GenotypeQuality
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bin: 7.75e1
variant carriers: 7

GenotypeQuality
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bin: 4.25e1
variant carriers: 4

GenotypeQuality
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bin: 8.75e1
variant carriers: 15

GenotypeQuality
all individuals: 111
bin: 5.25e1
variant carriers: 8

GenotypeQuality
all individuals: 296
bin: 9.75e1
variant carriers: 180

European (Finnish)
type: Population
allele count: 37
allele frequency: 1.005434782608696e-1
allele num: 368
num of homozygotes: 1

African
type: Population
allele count: 3
allele frequency: 9.422110552763819e-4
allele num: 3184
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1016
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 149
allele frequency: 1.149691358024691e-2
allele num: 12960
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8272
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

DP
type: SiteQuality
SIO_000300: 6.06922e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.51e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.69e0

QD
type: SiteQuality
SIO_000300: 1.207e1

GenotypeQuality
all individuals: 957
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1542
bin: 6.75e1
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 377
bin: 7.25e1
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GenotypeQuality
all individuals: 888
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.587253414264036e-5
allele num: 13180
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8280
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 356
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3212
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.633911368015414e-4
allele num: 1038
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1528
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.41e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.56e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.723e0

MQRankSum
type: SiteQuality
SIO_000300: -2.51e-1

FS
type: SiteQuality
SIO_000300: 4.442e0

DP
type: SiteQuality
SIO_000300: 6.09879e5

ClippingRankSum
type: SiteQuality
SIO_000300: -4.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 9281
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 149
bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 988
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GenotypeQuality
all individuals: 785
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2028
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GenotypeQuality
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GenotypeQuality
all individuals: 104
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GenotypeQuality
all individuals: 305
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GenotypeQuality
all individuals: 8605
bin: 6.25e1
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GenotypeQuality
all individuals: 117
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1318
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1918
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8436
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15272
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3478
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 446
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.3858e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.07e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.537e0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.581e0

QD
type: SiteQuality
SIO_000300: 5.67e0

GenotypeQuality
all individuals: 309
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1555
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 236
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1049
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
all individuals: 1016
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variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2148
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 9.75e1
variant carriers: 21

GenotypeQuality
all individuals: 33177
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8817
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 825
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 42
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 104
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 8.708633988554367e-4
allele num: 16076
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1428
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 458
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3560
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 7.035647279549719e-4
allele num: 8528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2078
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.76e-1

QD
type: SiteQuality
SIO_000300: 9.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.04e-2

FS
type: SiteQuality
SIO_000300: 1.107e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.36e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.89e-1

DP
type: SiteQuality
SIO_000300: 6.49628e5

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 43
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 174
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 33705
bin: 2.25e1
variant carriers: 2

GenotypeQuality
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bin: 7.25e1
variant carriers: 5

GenotypeQuality
all individuals: 1561
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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
all individuals: 999
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variant carriers: 2

GenotypeQuality
all individuals: 245
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 103
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GenotypeQuality
all individuals: 9072
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variant carriers: 1

GenotypeQuality
all individuals: 33
bin: 9.25e1
variant carriers: 10

GenotypeQuality
all individuals: 181
bin: 9.75e1
variant carriers: 80

European (Non-Finnish)
type: Population
allele count: 71
allele frequency: 4.240831441882691e-3
allele num: 16742
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 4.662004662004662e-4
allele num: 8580
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 5.813953488372093e-3
allele num: 1548
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 1.101928374655647e-3
allele num: 3630
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2212
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 4.081632653061225e-3
allele num: 490
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.36e-1

FS
type: SiteQuality
SIO_000300: 2.452e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.83e-2

QD
type: SiteQuality
SIO_000300: 1.074e1

DP
type: SiteQuality
SIO_000300: 6.55926e5

VQSLOD
type: SiteQuality
SIO_000300: 2.39e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-2

GenotypeQuality
all individuals: 8200
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1030
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 950
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variant carriers: 0

GenotypeQuality
all individuals: 192
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GenotypeQuality
all individuals: 360
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variant carriers: 0

GenotypeQuality
all individuals: 102
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variant carriers: 0

GenotypeQuality
all individuals: 34124
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variant carriers: 0

GenotypeQuality
all individuals: 211
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GenotypeQuality
all individuals: 377
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variant carriers: 1

GenotypeQuality
all individuals: 451
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GenotypeQuality
all individuals: 1549
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variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 1

GenotypeQuality
all individuals: 146
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 9386
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variant carriers: 0

GenotypeQuality
all individuals: 1572
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 7
allele frequency: 8.109360518999073e-4
allele num: 8632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.7472335468841e-4
allele num: 17170
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2296
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 282
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 494
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1666
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.714440825190011e-4
allele num: 3684
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.355e0

VQSLOD
type: SiteQuality
SIO_000300: 2.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.89e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.12e-1

DP
type: SiteQuality
SIO_000300: 6.62034e5

QD
type: SiteQuality
SIO_000300: 1.02e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

GenotypeQuality
all individuals: 1947
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 24
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 392
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 9.75e1
variant carriers: 19

GenotypeQuality
all individuals: 103
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variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 5.75e1
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GenotypeQuality
all individuals: 910
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33751
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1083
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variant carriers: 1

GenotypeQuality
all individuals: 8987
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1567
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variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 5.25e1
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GenotypeQuality
all individuals: 378
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variant carriers: 1

GenotypeQuality
all individuals: 8189
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variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 299
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variant carriers: 1

GenotypeQuality
all individuals: 242
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 504
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 5.753739930955121e-4
allele num: 1738
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17490
num of homozygotes: 0

African
type: Population
allele count: 20
allele frequency: 5.414185165132647e-3
allele num: 3694
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.87e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.331e0

MQRankSum
type: SiteQuality
SIO_000300: 2.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

QD
type: SiteQuality
SIO_000300: 1.091e1

FS
type: SiteQuality
SIO_000300: 5.24e-1

DP
type: SiteQuality
SIO_000300: 6.61321e5

VQSLOD
type: SiteQuality
SIO_000300: 3.4e0

GenotypeQuality
all individuals: 282
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8622
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35
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variant carriers: 0

GenotypeQuality
all individuals: 194
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variant carriers: 0

GenotypeQuality
all individuals: 643
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variant carriers: 0

GenotypeQuality
all individuals: 3905
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variant carriers: 1

GenotypeQuality
all individuals: 1444
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variant carriers: 0

GenotypeQuality
all individuals: 977
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variant carriers: 0

GenotypeQuality
all individuals: 666
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GenotypeQuality
all individuals: 505
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variant carriers: 0

GenotypeQuality
all individuals: 418
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GenotypeQuality
all individuals: 98
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variant carriers: 2

GenotypeQuality
all individuals: 23
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GenotypeQuality
all individuals: 7597
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GenotypeQuality
all individuals: 352
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1684
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.168770453482936e-4
allele num: 17112
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 460
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 286
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.682e0

DP
type: SiteQuality
SIO_000300: 6.54649e5

MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.05e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.72e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

QD
type: SiteQuality
SIO_000300: 7.44e0

GenotypeQuality
all individuals: 493
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1442
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variant carriers: 0

GenotypeQuality
all individuals: 2996
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GenotypeQuality
all individuals: 550
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 281
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variant carriers: 0

GenotypeQuality
all individuals: 1311
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 8635
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variant carriers: 1

GenotypeQuality
all individuals: 352
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GenotypeQuality
all individuals: 600
bin: 2.5e0
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GenotypeQuality
all individuals: 190
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GenotypeQuality
all individuals: 964
bin: 3.25e1
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GenotypeQuality
all individuals: 7943
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variant carriers: 2

GenotypeQuality
all individuals: 40
bin: 8.75e1
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GenotypeQuality
all individuals: 94
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variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 9.75e1
variant carriers: 46

GenotypeQuality
all individuals: 21
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2414
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.152870647913304e-4
allele num: 8674
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 44
allele frequency: 2.519180121378679e-3
allele num: 17466
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1726
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 3.424657534246575e-3
allele num: 292
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.29e-1

QD
type: SiteQuality
SIO_000300: 1.285e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.99e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

DP
type: SiteQuality
SIO_000300: 6.56606e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 36
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8372
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GenotypeQuality
all individuals: 370
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GenotypeQuality
all individuals: 560
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GenotypeQuality
all individuals: 2211
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GenotypeQuality
all individuals: 354
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GenotypeQuality
all individuals: 90
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GenotypeQuality
all individuals: 483
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GenotypeQuality
all individuals: 8590
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GenotypeQuality
all individuals: 946
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GenotypeQuality
all individuals: 69
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GenotypeQuality
all individuals: 181
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GenotypeQuality
all individuals: 327
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GenotypeQuality
all individuals: 21
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GenotypeQuality
all individuals: 94
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GenotypeQuality
all individuals: 1457
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2440
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.692429200045131e-4
allele num: 17726
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1754
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.04e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.805e0

QD
type: SiteQuality
SIO_000300: 2.56e0

MQRankSum
type: SiteQuality
SIO_000300: -4.11e-1

DP
type: SiteQuality
SIO_000300: 6.56285e5

FS
type: SiteQuality
SIO_000300: 2.951e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.718e0

GenotypeQuality
all individuals: 8568
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 85
bin: 5.75e1
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GenotypeQuality
all individuals: 436
bin: 2.5e0
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GenotypeQuality
all individuals: 1074
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GenotypeQuality
all individuals: 1908
bin: 1.75e1
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GenotypeQuality
all individuals: 115
bin: 9.75e1
variant carriers: 56

GenotypeQuality
all individuals: 8605
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GenotypeQuality
all individuals: 357
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GenotypeQuality
all individuals: 99
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GenotypeQuality
all individuals: 22
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GenotypeQuality
all individuals: 281
bin: 5.25e1
variant carriers: 4

GenotypeQuality
all individuals: 459
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GenotypeQuality
all individuals: 33667
bin: 2.25e1
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GenotypeQuality
all individuals: 929
bin: 3.25e1
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GenotypeQuality
all individuals: 1189
bin: 1.25e1
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GenotypeQuality
all individuals: 1468
bin: 6.75e1
variant carriers: 5

GenotypeQuality
all individuals: 36
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 284
bin: 7.75e1
variant carriers: 3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3670
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 61
allele frequency: 3.387007218212104e-3
allele num: 18010
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 5.747126436781609e-4
allele num: 8700
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 5.263157894736842e-3
allele num: 570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1788
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2472
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 294
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.152e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.86e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

QD
type: SiteQuality
SIO_000300: 1.094e1

DP
type: SiteQuality
SIO_000300: 6.55503e5

BaseQRankSum
type: SiteQuality
SIO_000300: -3.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.18e0

GenotypeQuality
all individuals: 280
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8741
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33703
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1877
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1464
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1164
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 59
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 902
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1788
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8702
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 294
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17818
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 4.061738424045491e-4
allele num: 2462
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

FS
type: SiteQuality
SIO_000300: 1.447e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.28e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.04e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.285e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.22e-1

DP
type: SiteQuality
SIO_000300: 6.53239e5

QD
type: SiteQuality
SIO_000300: 6.58e0

GenotypeQuality
all individuals: 1052
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1869
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8374
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9088
bin: 7.5e0
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1423
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1067
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17664
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2446
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1792
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8690
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3612
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.98e-2

DP
type: SiteQuality
SIO_000300: 6.4509e5

VQSLOD
type: SiteQuality
SIO_000300: 4.45e0

QD
type: SiteQuality
SIO_000300: 1.033e1

GenotypeQuality
all individuals: 336
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8597
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9048
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1045
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 841
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1421
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1524
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34264
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 9.75e1
variant carriers: 4

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2458
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 5.549389567147614e-4
allele num: 1802
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 296
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.150218541522889e-4
allele num: 8694
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.131733816206428e-4
allele num: 17672
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.03e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.78e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.75e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.223e1

MQRankSum
type: SiteQuality
SIO_000300: 4.71e-1

DP
type: SiteQuality
SIO_000300: 6.46817e5

GenotypeQuality
all individuals: 1152
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10656
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32557
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 883
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 207
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1068
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7306
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 230
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 90
bin: 9.75e1
variant carriers: 35

GenotypeQuality
all individuals: 32
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 17
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 284
num of homozygotes: 0

East Asian
type: Population
allele count: 33
allele frequency: 1.416309012875537e-2
allele num: 2330
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3420
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1708
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16980
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.16e1

DP
type: SiteQuality
SIO_000300: 6.18564e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

FS
type: SiteQuality
SIO_000300: 3.47e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.29e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

GenotypeQuality
all individuals: 56
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 32
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1057
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32210
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7132
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10885
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1176
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variant carriers: 0

GenotypeQuality
all individuals: 327
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variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 82
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variant carriers: 0

GenotypeQuality
all individuals: 2620
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1374
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 862
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 9.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 498
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2216
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3372
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1696
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.972288580984233e-5
allele num: 16744
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.42e-2

VQSLOD
type: SiteQuality
SIO_000300: -6.871e-1

QD
type: SiteQuality
SIO_000300: 2.402e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.92e-1

DP
type: SiteQuality
SIO_000300: 6.15641e5

GenotypeQuality
all individuals: 31890
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1104
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2521
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 821
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 1355
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 321
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 80
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1031
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6932
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 140
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2138
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.225039813793948e-4
allele num: 16326
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 464
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3322
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.02896e5

FS
type: SiteQuality
SIO_000300: 7.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.52e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

MQRankSum
type: SiteQuality
SIO_000300: -6.5e-2

QD
type: SiteQuality
SIO_000300: 1.217e1

GenotypeQuality
all individuals: 12154
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
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GenotypeQuality
all individuals: 174
bin: 4.75e1
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GenotypeQuality
all individuals: 823
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 390
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variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 575
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 79
bin: 8.25e1
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GenotypeQuality
all individuals: 1030
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1604
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.202704379109291e-5
allele num: 16122
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2090
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 454
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.334267040149393e-4
allele num: 8568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3302
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.99311e5

MQRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.59e-2

QD
type: SiteQuality
SIO_000300: 1.377e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.415e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.493e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

GenotypeQuality
all individuals: 601
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6930
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 808
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12185
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1354
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1007
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 9.75e1
variant carriers: 4

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1600
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2102
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 16124
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.332633543270352e-4
allele num: 8574
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 452
num of homozygotes: 0

African
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allele count: 1
allele frequency: 3.03030303030303e-4
allele num: 3300
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.61e-2

DP
type: SiteQuality
SIO_000300: 5.994e5

ReadPosRankSum
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SIO_000300: 2.17e-1

BaseQRankSum
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SIO_000300: 1.13e0

VQSLOD
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SIO_000300: -7.579e-1

FS
type: SiteQuality
SIO_000300: 1.4071e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-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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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1596
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 4.424778761061947e-3
allele num: 452
num of homozygotes: 0

African
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allele count: 1
allele frequency: 3.059975520195838e-4
allele num: 3268
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2050
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 4.377736085053158e-4
allele num: 15990
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.27e0

BaseQRankSum
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SIO_000300: 0.0e0

MQ
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SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

InbreedingCoeff
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SIO_000300: -2.68e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.97704e5

QD
type: SiteQuality
SIO_000300: 1.321e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.54e-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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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 14554
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 7.374631268436578e-4
allele num: 1356
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1796
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.44e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

DP
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SIO_000300: 5.53052e5

ReadPosRankSum
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SIO_000300: -1.932e0

VQSLOD
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SIO_000300: -1.456e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.18e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.637e0

QD
type: SiteQuality
SIO_000300: 1.067e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2914
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 374
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.199040767386091e-4
allele num: 8340
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13710
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.28684e5

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.06e-2

FS
type: SiteQuality
SIO_000300: 8.176e0

VQSLOD
type: SiteQuality
SIO_000300: 8.0e-2

QD
type: SiteQuality
SIO_000300: 1.139e1

MQRankSum
type: SiteQuality
SIO_000300: -6.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1554
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.375209380234506e-4
allele num: 1194
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13260
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 358
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
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num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-2

QD
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SIO_000300: 6.38e0

MQRankSum
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ReadPosRankSum
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SIO_000300: -6.889999999999999e-1

BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 5.17289e5

VQSLOD
type: SiteQuality
SIO_000300: -2.135e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

FS
type: SiteQuality
SIO_000300: 5.332e0

MQ
type: SiteQuality
SIO_000300: 5.843e1

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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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1354
num of homozygotes: 0

European (Non-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 num: 2694
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.948e1

FS
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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DP
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ReadPosRankSum
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BaseQRankSum
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QD
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3.75e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 714
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 9700
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 7800
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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Other
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East Asian
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MQRankSum
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SIO_000300: 1.23e0

VQSLOD
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FS
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QD
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ClippingRankSum
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DP
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MQ
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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Other
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African
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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East Asian
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South Asian
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QD
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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FS
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ClippingRankSum
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MQRankSum
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MQ
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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bin: 6.75e1
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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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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 4.533091568449683e-4
allele num: 2206
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.314751511964239e-4
allele num: 7606
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8190
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.871e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.710000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

FS
type: SiteQuality
SIO_000300: 2.034e0

DP
type: SiteQuality
SIO_000300: 3.89243e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.11e-1

QD
type: SiteQuality
SIO_000300: 1.609e1

GenotypeQuality
all individuals: 49
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 7.5e0
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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
all individuals: 4
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2204
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 668
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 496
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8032
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 114
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.859e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 9.220000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.77e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.29e-1

DP
type: SiteQuality
SIO_000300: 3.84982e5

GenotypeQuality
all individuals: 379
bin: 3.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 3

GenotypeQuality
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bin: 1.25e1
variant carriers: 7

GenotypeQuality
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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variant carriers: 16

GenotypeQuality
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variant carriers: 101

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 12

GenotypeQuality
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GenotypeQuality
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variant carriers: 8

GenotypeQuality
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variant carriers: 15

GenotypeQuality
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GenotypeQuality
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variant carriers: 14

GenotypeQuality
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variant carriers: 3

GenotypeQuality
all individuals: 15
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variant carriers: 13

GenotypeQuality
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bin: 8.25e1
variant carriers: 9

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 320
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.941176470588235e-2
allele num: 34
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 57
allele frequency: 9.365757476174828e-3
allele num: 6086
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 2.741228070175438e-3
allele num: 1824
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 6.172839506172839e-3
allele num: 162
num of homozygotes: 0

South Asian
type: Population
allele count: 31
allele frequency: 4.287690179806363e-3
allele num: 7230
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.71e-2

QD
type: SiteQuality
SIO_000300: 1.389e1

DP
type: SiteQuality
SIO_000300: 3.0098e5

VQSLOD
type: SiteQuality
SIO_000300: 4.97e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 141
bin: 4.75e1
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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GenotypeQuality
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GenotypeQuality
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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
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GenotypeQuality
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GenotypeQuality
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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: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 370
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GenotypeQuality
all individuals: 97
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1832
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7248
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6054
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.98914e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.404e1

VQSLOD
type: SiteQuality
SIO_000300: 3.8e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.01e-2

FS
type: SiteQuality
SIO_000300: 6.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

GenotypeQuality
all individuals: 6137
bin: 2.25e1
variant carriers: 6

GenotypeQuality
all individuals: 3118
bin: 6.25e1
variant carriers: 10

GenotypeQuality
all individuals: 97
bin: 5.75e1
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 34390
bin: 7.5e0
variant carriers: 3

GenotypeQuality
all individuals: 853
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GenotypeQuality
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variant carriers: 10

GenotypeQuality
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GenotypeQuality
all individuals: 3
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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variant carriers: 103

GenotypeQuality
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variant carriers: 4

GenotypeQuality
all individuals: 25
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GenotypeQuality
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bin: 3.25e1
variant carriers: 4

GenotypeQuality
all individuals: 14
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variant carriers: 3

GenotypeQuality
all individuals: 370
bin: 3.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.144654088050315e-3
allele num: 318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.303600925008259e-4
allele num: 6054
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 6.329113924050633e-3
allele num: 158
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7248
num of homozygotes: 0

African
type: Population
allele count: 94
allele frequency: 5.131004366812227e-2
allele num: 1832
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e-1

DP
type: SiteQuality
SIO_000300: 2.98914e5

QD
type: SiteQuality
SIO_000300: 1.404e1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.8e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.01e-2

GenotypeQuality
all individuals: 85
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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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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 160
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.380071763731714e-4
allele num: 7246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6012
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1774
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
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FS
type: SiteQuality
SIO_000300: 4.624e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.25e0

MQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.137e0

DP
type: SiteQuality
SIO_000300: 2.95367e5

QD
type: SiteQuality
SIO_000300: 8.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.93e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.4e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.6e-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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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.743983257760725e-4
allele num: 5734
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 358
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
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African
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: 7060
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.1e-2

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.78027e5

MQ
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -2.327e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1
allele frequency: 6.134969325153375e-4
allele num: 1630
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 348
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5644
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
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MQRankSum
type: SiteQuality
SIO_000300: -6.37e-1

BaseQRankSum
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.499e1

MQ
type: SiteQuality
SIO_000300: 5.875e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5.75e1
variant carriers: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 348
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 302
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 1622
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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SIO_000300: 2.85e0

DP
type: SiteQuality
SIO_000300: 2.66839e5

QD
type: SiteQuality
SIO_000300: 1.415e1

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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GenotypeQuality
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bin: 7.75e1
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele 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

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 frequency: 6.493506493506494e-3
allele num: 154
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4984
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e0

ReadPosRankSum
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MQRankSum
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QD
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MQ
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FS
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
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DP
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4812
num of homozygotes: 0

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

MQRankSum
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SIO_000300: -5.72e-1

InbreedingCoeff
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SIO_000300: -8.409999999999999e-2

BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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FS
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SIO_000300: 0.0e0

VQSLOD
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QD
type: SiteQuality
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MQ
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SIO_000300: 5.395e1

DP
type: SiteQuality
SIO_000300: 2.17873e5

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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variant carriers: 0

African
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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
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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: 300
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.08073241781107e-4
allele num: 4806
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -5.5e-1

InbreedingCoeff
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SIO_000300: -8.32e-2

VQSLOD
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MQRankSum
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QD
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ClippingRankSum
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SIO_000300: 1.77e0

DP
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SIO_000300: 2.17576e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 284
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 140
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: 1
allele frequency: 8.305647840531562e-4
allele num: 1204
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 232
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.037e1

ClippingRankSum
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SIO_000300: -9.22e-1

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: -1.368e0

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

InbreedingCoeff
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SIO_000300: -8.210000000000001e-2

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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European (Non-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 frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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DP
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FS
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MQ
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QD
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SIO_000300: 9.9e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 3
allele frequency: 4.774029280712922e-4
allele num: 6284
num of homozygotes: 0

Latino
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num of homozygotes: 0

Other
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num of homozygotes: 0

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

European (Finnish)
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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QD
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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FS
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DP
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

African
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Latino
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East Asian
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South Asian
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Other
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European (Non-Finnish)
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VQSLOD
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QD
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InbreedingCoeff
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FS
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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bin: 6.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 14
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.580777742649384e-4
allele num: 6326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3590
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

QD
type: SiteQuality
SIO_000300: 3.22e0

MQ
type: SiteQuality
SIO_000300: 5.682e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.65e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.95e-1

DP
type: SiteQuality
SIO_000300: 1.57714e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.54e-1

FS
type: SiteQuality
SIO_000300: 6.113e0

VQSLOD
type: SiteQuality
SIO_000300: -2.145e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.95e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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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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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.545117428924598e-4
allele num: 6472
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3410
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.32e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.51e0

QD
type: SiteQuality
SIO_000300: 1.29e1

VQSLOD
type: SiteQuality
SIO_000300: -1.53e0

MQ
type: SiteQuality
SIO_000300: 5.849e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.549e0

DP
type: SiteQuality
SIO_000300: 1.50128e5

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 96
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2918
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 1.334044823906083e-4
allele num: 7496
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -8.838e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.76e-1

ClippingRankSum
type: SiteQuality
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DP
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SIO_000300: 1.53432e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.88e-2

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.208e1

BaseQRankSum
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SIO_000300: -4.493e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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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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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bin: 9.75e1
variant carriers: 1

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 96
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2896
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 152
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 250
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7502
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

DP
type: SiteQuality
SIO_000300: 1.52863e5

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

FS
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SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.87e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.537e0

QD
type: SiteQuality
SIO_000300: 5.22e0

GenotypeQuality
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bin: 1.25e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 479
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variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 94
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
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: 2860
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 234
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 144
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MQRankSum
type: SiteQuality
SIO_000300: 8.76e-1

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.522e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQ
type: SiteQuality
SIO_000300: 6.107e1

DP
type: SiteQuality
SIO_000300: 1.51104e5

VQSLOD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -5.77e-2

QD
type: SiteQuality
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ReadPosRankSum
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SIO_000300: -1.652e0