16-2134961-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2134961
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2134961
    reference: chr 16
allele count: 1
allele frequency: 8.325562808045825e-6
allele num: 120112
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.685C>T
  hgvsp: ENST00000569110.1:c.685C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4374C>T
  hgvsp: ENST00000353929.4:c.4374C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3670C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4335C>T
  hgvsp: ENST00000568454.1:c.4335C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4158C>T
  hgvsp: ENST00000382538.6:c.4158C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4302C>T
  hgvsp: ENST00000401874.2:c.4302C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2261C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4503C>T
  hgvsp: ENST00000219476.3:c.4503C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4434C>T
  hgvsp: ENST00000350773.4:c.4434C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4194C>T
  hgvsp: ENST00000439673.2:c.4194C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1618C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe1501Phe
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

16-2134968-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2134968
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2134968
    reference: chr 16
allele count: 6
allele frequency: 4.994672349493873e-5
allele num: 120128
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2268C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1625C>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.4165C>T
  hgvsp: ENSP00000371978.6:p.Leu1389Phe
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4201C>T
  hgvsp: ENSP00000399232.2:p.Leu1401Phe
  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.4309C>T
  hgvsp: ENSP00000384468.2:p.Leu1437Phe
  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.4342C>T
  hgvsp: ENSP00000454487.1:p.Leu1448Phe
  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.4441C>T
  hgvsp: ENSP00000344383.4:p.Leu1481Phe
  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.4510C>T
  hgvsp: ENSP00000219476.3:p.Leu1504Phe
  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.4381C>T
  hgvsp: ENSP00000248099.4:p.Leu1461Phe
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.692C>T
  hgvsp: ENSP00000455817.1:p.Leu232Phe
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3677C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8520
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5026
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1504Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

16-2134970-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2134970
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2134970
    reference: chr 16
allele count: 7
allele frequency: 5.827117741076185e-5
allele num: 120128
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4167C>G
  hgvsp: ENST00000382538.6:c.4167C>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.4383C>G
  hgvsp: ENST00000353929.4:c.4383C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.694C>G
  hgvsp: ENST00000569110.1:c.694C>G(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.4344C>G
  hgvsp: ENST00000568454.1:c.4344C>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.4311C>G
  hgvsp: ENST00000401874.2:c.4311C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1627C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2270C>G
  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.4512C>G
  hgvsp: ENST00000219476.3:c.4512C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4203C>G
  hgvsp: ENST00000439673.2:c.4203C>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.4443C>G
  hgvsp: ENST00000350773.4:c.4443C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3679C>G
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5026
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8520
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14102
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1504Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

16-2134977-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2134977
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2134977
    reference: chr 16
allele count: 5
allele frequency: 4.172020759975301e-5
allele num: 119846
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.701T>C
  hgvsp: ENSP00000455817.1:p.Ser235Pro
  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.4519T>C
  hgvsp: ENSP00000219476.3:p.Ser1507Pro
  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.4174T>C
  hgvsp: ENSP00000371978.6:p.Ser1392Pro
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2277T>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4210T>C
  hgvsp: ENSP00000399232.2:p.Ser1404Pro
  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.4450T>C
  hgvsp: ENSP00000344383.4:p.Ser1484Pro
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1634T>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3686T>C
  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.4390T>C
  hgvsp: ENSP00000248099.4:p.Ser1464Pro
  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.4351T>C
  hgvsp: ENSP00000454487.1:p.Ser1451Pro
  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.4318T>C
  hgvsp: ENSP00000384468.2:p.Ser1440Pro
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5031
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser1507Pro
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/16-2134978-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2134978
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2134978
    reference: chr 16
allele count: 2
allele frequency: 1.664779916095092e-5
allele num: 120136
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3687C>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4352C>A
  hgvsp: ENSP00000454487.1:p.Ser1451Tyr
  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.4451C>A
  hgvsp: ENSP00000344383.4:p.Ser1484Tyr
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1635C>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.4391C>A
  hgvsp: ENSP00000248099.4:p.Ser1464Tyr
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.702C>A
  hgvsp: ENSP00000455817.1:p.Ser235Tyr
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4211C>A
  hgvsp: ENSP00000399232.2:p.Ser1404Tyr
  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.4319C>A
  hgvsp: ENSP00000384468.2:p.Ser1440Tyr
  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.4520C>A
  hgvsp: ENSP00000219476.3:p.Ser1507Tyr
  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.4175C>A
  hgvsp: ENSP00000371978.6:p.Ser1392Tyr
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2278C>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8484
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2427
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14110
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser1507Tyr
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

16-2134979-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2134979
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2134979
    reference: chr 16
allele count: 3
allele frequency: 2.49708673214583e-5
allele num: 120140
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1636C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4452C>T
  hgvsp: ENST00000350773.4:c.4452C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4392C>T
  hgvsp: ENST00000353929.4:c.4392C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2279C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4320C>T
  hgvsp: ENST00000401874.2:c.4320C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3688C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4176C>T
  hgvsp: ENST00000382538.6:c.4176C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4353C>T
  hgvsp: ENST00000568454.1:c.4353C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4212C>T
  hgvsp: ENST00000439673.2:c.4212C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.703C>T
  hgvsp: ENST00000569110.1:c.703C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4521C>T
  hgvsp: ENST00000219476.3:c.4521C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8484
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2427
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser1507Ser
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum

16-2134981-CCTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2134981
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2134978
    reference: chr 16
allele count: 642
allele frequency: 5.343409794586676e-3
allele num: 120148
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_benign
  consequence: inframe_deletion
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4359_4361delCTT
  hgvsp: ENSP00000454487.1:p.Phe1454del
  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: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2285_2287delCTT
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_benign
  consequence: inframe_deletion
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4398_4400delCTT
  hgvsp: ENSP00000248099.4:p.Phe1467del
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_benign
  consequence: inframe_deletion
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4218_4220delCTT
  hgvsp: ENSP00000399232.2:p.Phe1407del
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_benign
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3694_*3696delCTT
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_benign
  consequence: inframe_deletion
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4182_4184delCTT
  hgvsp: ENSP00000371978.6:p.Phe1395del
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  clinical significance: not_provided&likely_benign
  consequence: inframe_deletion
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4527_4529delCTT
  hgvsp: ENSP00000219476.3:p.Phe1510del
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_benign
  consequence: inframe_deletion
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4326_4328delCTT
  hgvsp: ENSP00000384468.2:p.Phe1443del
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_benign
  consequence: inframe_deletion
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.709_711delCTT
  hgvsp: ENSP00000455817.1:p.Phe238del
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_benign
  consequence: inframe_deletion
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4458_4460delCTT
  hgvsp: ENSP00000344383.4:p.Phe1487del
  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: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1642_1644delCTT
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4946
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14078
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 6.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 7.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8412
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 9.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 7.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 4.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 9.75e1
  variant carriers: 384
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 8.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
hgvs: p.Phe1510del
num of homozygotes: 5
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: CCTT
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

16-2134985-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2134985
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2134985
    reference: chr 16
allele count: 1
allele frequency: 8.41226845231085e-6
allele num: 118874
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4182C>T
  hgvsp: ENST00000382538.6:c.4182C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4359C>T
  hgvsp: ENST00000568454.1:c.4359C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1642C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.709C>T
  hgvsp: ENST00000569110.1:c.709C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4398C>T
  hgvsp: ENST00000353929.4:c.4398C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4218C>T
  hgvsp: ENST00000439673.2:c.4218C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2285C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4527C>T
  hgvsp: ENST00000219476.3:c.4527C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4326C>T
  hgvsp: ENST00000401874.2:c.4326C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4458C>T
  hgvsp: ENST00000350773.4:c.4458C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3694C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8411
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4946
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe1509Phe
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

16-2134988-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2134988
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2134988
    reference: chr 16
allele count: 4
allele frequency: 3.335835209740639e-5
allele num: 119910
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2288T>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4329T>G
  hgvsp: ENSP00000384468.2:p.Phe1443Leu
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.712T>G
  hgvsp: ENSP00000455817.1:p.Phe238Leu
  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.4362T>G
  hgvsp: ENSP00000454487.1:p.Phe1454Leu
  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.4401T>G
  hgvsp: ENSP00000248099.4:p.Phe1467Leu
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1645T>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3697T>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4221T>G
  hgvsp: ENSP00000399232.2:p.Phe1407Leu
  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.4185T>G
  hgvsp: ENSP00000371978.6:p.Phe1395Leu
  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.4530T>G
  hgvsp: ENSP00000219476.3:p.Phe1510Leu
  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.4461T>G
  hgvsp: ENSP00000344383.4:p.Phe1487Leu
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe1510Leu
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

16-2134991-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2134991
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2134991
    reference: chr 16
allele count: 3
allele frequency: 2.497211447217274e-5
allele num: 120134
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4224C>T
  hgvsp: ENST00000439673.2:c.4224C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1648C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4188C>T
  hgvsp: ENST00000382538.6:c.4188C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4533C>T
  hgvsp: ENST00000219476.3:c.4533C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4365C>T
  hgvsp: ENST00000568454.1:c.4365C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.715C>T
  hgvsp: ENST00000569110.1:c.715C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4464C>T
  hgvsp: ENST00000350773.4:c.4464C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3700C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2291C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4404C>T
  hgvsp: ENST00000353929.4:c.4404C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4332C>T
  hgvsp: ENST00000401874.2:c.4332C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly1511Gly
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

16-2134992-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2134992
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2134992
    reference: chr 16
allele count: 1
allele frequency: 8.324038157390913e-6
allele num: 120134
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4405G>C
  hgvsp: ENSP00000248099.4:p.Asp1469His
  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.4465G>C
  hgvsp: ENSP00000344383.4:p.Asp1489His
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1649G>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4225G>C
  hgvsp: ENSP00000399232.2:p.Asp1409His
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.716G>C
  hgvsp: ENSP00000455817.1:p.Asp240His
  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.4189G>C
  hgvsp: ENSP00000371978.6:p.Asp1397His
  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.4366G>C
  hgvsp: ENSP00000454487.1:p.Asp1456His
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3701G>C
  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.4333G>C
  hgvsp: ENSP00000384468.2:p.Asp1445His
  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.4534G>C
  hgvsp: ENSP00000219476.3:p.Asp1512His
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2292G>C
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8470
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp1512His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

16-2134994-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2134994
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2134994
    reference: chr 16
allele count: 334
allele frequency: 2.780367607884923e-3
allele num: 120128
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign&likely_benign
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3703C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  clinical significance: not_provided&benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4536C>T
  hgvsp: ENST00000219476.3:c.4536C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4335C>T
  hgvsp: ENST00000401874.2:c.4335C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4467C>T
  hgvsp: ENST00000350773.4:c.4467C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4191C>T
  hgvsp: ENST00000382538.6:c.4191C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign&likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2294C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4407C>T
  hgvsp: ENST00000353929.4:c.4407C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4368C>T
  hgvsp: ENST00000568454.1:c.4368C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.718C>T
  hgvsp: ENST00000569110.1:c.718C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4227C>T
  hgvsp: ENST00000439673.2:c.4227C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign&likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1651C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 6.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 15243
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14212
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 7.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 3079
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 8.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 9.75e1
  variant carriers: 160
genotype depth: GenotypeDepth
  all individuals: 3017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 8448
  bin: 3.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
hgvs: p.Asp1512Asp
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

16-2134995-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2134995
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2134995
    reference: chr 16
allele count: 1
allele frequency: 8.324453915823122e-6
allele num: 120128
alternate allele: A
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.4192G>A
  hgvsp: ENSP00000371978.6:p.Glu1398Lys
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4228G>A
  hgvsp: ENSP00000399232.2:p.Glu1410Lys
  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.4537G>A
  hgvsp: ENSP00000219476.3:p.Glu1513Lys
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3704G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.719G>A
  hgvsp: ENSP00000455817.1:p.Glu241Lys
  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.4369G>A
  hgvsp: ENSP00000454487.1:p.Glu1457Lys
  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.4408G>A
  hgvsp: ENSP00000248099.4:p.Glu1470Lys
  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.4468G>A
  hgvsp: ENSP00000344383.4:p.Glu1490Lys
  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.4336G>A
  hgvsp: ENSP00000384468.2:p.Glu1446Lys
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1652G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2295G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4961
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3076
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15324
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1513Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

16-2134998-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2134998
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2134998
    reference: chr 16
allele count: 3
allele frequency: 2.498126405196103e-5
allele num: 120090
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.4195T>A
  hgvsp: ENSP00000371978.6:p.Ser1399Thr
  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.4471T>A
  hgvsp: ENSP00000344383.4:p.Ser1491Thr
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.722T>A
  hgvsp: ENSP00000455817.1:p.Ser242Thr
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3707T>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4231T>A
  hgvsp: ENSP00000399232.2:p.Ser1411Thr
  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.4540T>A
  hgvsp: ENSP00000219476.3:p.Ser1514Thr
  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.4372T>A
  hgvsp: ENSP00000454487.1:p.Ser1458Thr
  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.4411T>A
  hgvsp: ENSP00000248099.4:p.Ser1471Thr
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1655T>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.4339T>A
  hgvsp: ENSP00000384468.2:p.Ser1447Thr
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2298T>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8483
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4968
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3080
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser1514Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/16-2134999-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2134999
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2134999
    reference: chr 16
allele count: 2
allele frequency: 1.667722891164404e-5
allele num: 119924
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.723C>A
  hgvsp: ENSP00000455817.1:p.Ser242Ter
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4472C>A
  hgvsp: ENSP00000344383.4:p.Ser1491Ter
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3708C>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4412C>A
  hgvsp: ENSP00000248099.4:p.Ser1471Ter
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4373C>A
  hgvsp: ENSP00000454487.1:p.Ser1458Ter
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4541C>A
  hgvsp: ENSP00000219476.3:p.Ser1514Ter
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1656C>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4196C>A
  hgvsp: ENSP00000371978.6:p.Ser1399Ter
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4340C>A
  hgvsp: ENSP00000384468.2:p.Ser1447Ter
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4232C>A
  hgvsp: ENSP00000399232.2:p.Ser1411Ter
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2299C>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8494
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4961
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser1514Ter
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD

16-2135001-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135001
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135001
    reference: chr 16
allele count: 1
allele frequency: 8.32251406504877e-6
allele num: 120156
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4198A>G
  hgvsp: ENSP00000371978.6:p.Asn1400Asp
  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.4414A>G
  hgvsp: ENSP00000248099.4:p.Asn1472Asp
  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.4375A>G
  hgvsp: ENSP00000454487.1:p.Asn1459Asp
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1658A>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4474A>G
  hgvsp: ENSP00000344383.4:p.Asn1492Asp
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3710A>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4342A>G
  hgvsp: ENSP00000384468.2:p.Asn1448Asp
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.725A>G
  hgvsp: ENSP00000455817.1:p.Asn243Asp
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4234A>G
  hgvsp: ENSP00000399232.2:p.Asn1412Asp
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2301A>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4543A>G
  hgvsp: ENSP00000219476.3:p.Asn1515Asp
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8510
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4952
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn1515Asp
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS

http://identifiers.org/exac.variant/16-2135003-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135003
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135003
    reference: chr 16
allele count: 402
allele frequency: 3.600085972202321e-3
allele num: 111664
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4476C>A
  hgvsp: ENSP00000344383.4:p.Asn1492Lys
  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.4344C>A
  hgvsp: ENSP00000384468.2:p.Asn1448Lys
  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.4545C>A
  hgvsp: ENSP00000219476.3:p.Asn1515Lys
  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.4200C>A
  hgvsp: ENSP00000371978.6:p.Asn1400Lys
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2303C>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.727C>A
  hgvsp: ENSP00000455817.1:p.Asn243Lys
  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.4416C>A
  hgvsp: ENSP00000248099.4:p.Asn1472Lys
  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.4377C>A
  hgvsp: ENSP00000454487.1:p.Asn1459Lys
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1660C>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4236C>A
  hgvsp: ENSP00000399232.2:p.Asn1412Lys
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3712C>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 13649
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 9.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 5.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3692
  bin: 9.75e1
  variant carriers: 147
genotype depth: GenotypeDepth
  all individuals: 4497
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14693
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 7.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7960
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 5.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 2857
  bin: 4.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 6.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 8.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 7.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 6.25e1
  variant carriers: 29
genotype quality: GenotypeQuality
hgvs: p.Asn1515Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum

16-2135003-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135003
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135003
    reference: chr 16
allele count: 1
allele frequency: 8.955437741796819e-6
allele num: 111664
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4236C>T
  hgvsp: ENST00000439673.2:c.4236C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4344C>T
  hgvsp: ENST00000401874.2:c.4344C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4476C>T
  hgvsp: ENST00000350773.4:c.4476C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.727C>T
  hgvsp: ENST00000569110.1:c.727C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4545C>T
  hgvsp: ENST00000219476.3:c.4545C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2303C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4416C>T
  hgvsp: ENST00000353929.4:c.4416C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4377C>T
  hgvsp: ENST00000568454.1:c.4377C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4200C>T
  hgvsp: ENST00000382538.6:c.4200C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1660C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3712C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 13649
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7960
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2857
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn1515Asn
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

16-2135010-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135010
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135010
    reference: chr 16
allele count: 2
allele frequency: 1.664253499092982e-5
allele num: 120174
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4552A>G
  hgvsp: ENSP00000219476.3:p.Ile1518Val
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2310A>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4243A>G
  hgvsp: ENSP00000399232.2:p.Ile1415Val
  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.4351A>G
  hgvsp: ENSP00000384468.2:p.Ile1451Val
  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.4423A>G
  hgvsp: ENSP00000248099.4:p.Ile1475Val
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.734A>G
  hgvsp: ENSP00000455817.1:p.Ile246Val
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1667A>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3719A>G
  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.4207A>G
  hgvsp: ENSP00000371978.6:p.Ile1403Val
  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.4384A>G
  hgvsp: ENSP00000454487.1:p.Ile1462Val
  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.4483A>G
  hgvsp: ENSP00000344383.4:p.Ile1495Val
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16143
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8532
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile1518Val
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

16-2135016-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135016
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135016
    reference: chr 16
allele count: 6
allele frequency: 4.993092888171363e-5
allele num: 120166
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4558C>T
  hgvsp: ENST00000219476.3:c.4558C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4213C>T
  hgvsp: ENST00000382538.6:c.4213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3725C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4489C>T
  hgvsp: ENST00000350773.4:c.4489C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4390C>T
  hgvsp: ENST00000568454.1:c.4390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1673C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4429C>T
  hgvsp: ENST00000353929.4:c.4429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4249C>T
  hgvsp: ENST00000439673.2:c.4249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.740C>T
  hgvsp: ENST00000569110.1:c.740C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2316C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4357C>T
  hgvsp: ENST00000401874.2:c.4357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2862
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1520Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ

16-2135023-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135023
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135023
    reference: chr 16
allele count: 10
allele frequency: 8.324315325064514e-5
allele num: 120130
alternate allele: G
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.4436A>G
  hgvsp: ENSP00000248099.4:p.Asn1479Ser
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4256A>G
  hgvsp: ENSP00000399232.2:p.Asn1419Ser
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1680A>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3732A>G
  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.4220A>G
  hgvsp: ENSP00000371978.6:p.Asn1407Ser
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.747A>G
  hgvsp: ENSP00000455817.1:p.Asn250Ser
  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.4397A>G
  hgvsp: ENSP00000454487.1:p.Asn1466Ser
  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.4565A>G
  hgvsp: ENSP00000219476.3:p.Asn1522Ser
  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.4496A>G
  hgvsp: ENSP00000344383.4:p.Asn1499Ser
  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.4364A>G
  hgvsp: ENSP00000384468.2:p.Asn1455Ser
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2323A>G
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4726
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Asn1522Ser
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

16-2135026-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135026
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135026
    reference: chr 16
allele count: 1
allele frequency: 8.324592511196577e-6
allele num: 120126
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3735A>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: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4400A>G
  hgvsp: ENSP00000454487.1:p.Glu1467Gly
  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
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2326A>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: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4439A>G
  hgvsp: ENSP00000248099.4:p.Glu1480Gly
  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.4367A>G
  hgvsp: ENSP00000384468.2:p.Glu1456Gly
  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.4568A>G
  hgvsp: ENSP00000219476.3:p.Glu1523Gly
  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.4499A>G
  hgvsp: ENSP00000344383.4:p.Glu1500Gly
  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: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.750A>G
  hgvsp: ENSP00000455817.1:p.Glu251Gly
  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: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4259A>G
  hgvsp: ENSP00000399232.2:p.Glu1420Gly
  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.4223A>G
  hgvsp: ENSP00000371978.6:p.Glu1408Gly
  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
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1683A>G
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16132
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4726
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8531
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1523Gly
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-2135032-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135032
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135032
    reference: chr 16
allele count: 3
allele frequency: 2.4982512241431e-5
allele num: 120084
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2327+5G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4401+5G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4260+5G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.751+5G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3736+5G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4440+5G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1684+5G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4368+5G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4500+5G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4224+5G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4569+5G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4725
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.4569+5G>A
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

16-2135033-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135033
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135033
    reference: chr 16
allele count: 1
allele frequency: 8.328197611472925e-6
allele num: 120074
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4569+6C>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.4500+6C>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.4368+6C>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.4401+6C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4260+6C>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.4224+6C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4440+6C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.751+6C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1684+6C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3736+6C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2327+6C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4729
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.4569+6C>T
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

16-2135034-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135034
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135034
    reference: chr 16
allele count: 1
allele frequency: 8.328613785521537e-6
allele num: 120068
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1684+7G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4440+7G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3736+7G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4260+7G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4401+7G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4224+7G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2327+7G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4500+7G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4368+7G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4569+7G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.751+7G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4726
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.4569+7G>A
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

16-2135038-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135038
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135038
    reference: chr 16
allele count: 1
allele frequency: 8.330695279828055e-6
allele num: 120038
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.4224+11C>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.*3736+11C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1684+11C>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.4368+11C>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.4569+11C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2327+11C>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.4401+11C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.751+11C>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.4260+11C>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.4440+11C>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.4500+11C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4724
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14936
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8447
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

16-2135039-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135039
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135039
    reference: chr 16
allele count: 3
allele frequency: 2.499291867304264e-5
allele num: 120034
alternate allele: T
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.4569+12C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4224+12C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4401+12C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4260+12C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4500+12C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4368+12C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4440+12C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.751+12C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3736+12C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2327+12C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1684+12C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4723
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8508
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16091
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

16-2135047-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135047
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135047
    reference: chr 16
allele count: 1
allele frequency: 8.335834083558401e-6
allele num: 119964
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1684+20C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3736+20C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4569+20C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4368+20C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2327+20C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4500+20C>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.4260+20C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4224+20C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4440+20C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4401+20C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.751+20C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15968
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8486
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8357
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

16-2135049-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135049
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135049
    reference: chr 16
allele count: 1
allele frequency: 8.337502084375522e-6
allele num: 119940
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4260+22T>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.4440+22T>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.4569+22T>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.751+22T>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2327+22T>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.*3736+22T>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.4500+22T>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.4401+22T>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1684+22T>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.4224+22T>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.4368+22T>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/16-2135051-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135051
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135051
    reference: chr 16
allele count: 1
allele frequency: 8.3380582329987e-6
allele num: 119932
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2327+24C>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.4401+24C>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.4440+24C>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.4260+24C>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.*3736+24C>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.4368+24C>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1684+24C>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.751+24C>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.4569+24C>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.4224+24C>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.4500+24C>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8441
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum

16-2135051-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135051
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135051
    reference: chr 16
allele count: 1
allele frequency: 8.3380582329987e-6
allele num: 119932
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.4500+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.*3736+24C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.751+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.4260+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.4569+24C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4368+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: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1684+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.4440+24C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2327+24C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4401+24C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4224+24C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8441
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4548
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

16-2135055-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135055
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135055
    reference: chr 16
allele count: 6
allele frequency: 5.005172011078114e-5
allele num: 119876
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.4224+28C>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.4260+28C>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.4440+28C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.751+28C>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.*3736+28C>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.4500+28C>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.4569+28C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1684+28C>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.4368+28C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2327+28C>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.4401+28C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14462
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4691
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15668
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD

16-2135056-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135056
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135056
    reference: chr 16
allele count: 3
allele frequency: 2.502460753073856e-5
allele num: 119882
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2327+29G>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.4260+29G>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.4500+29G>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.4368+29G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1684+29G>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.4569+29G>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.4224+29G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.751+29G>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.4440+29G>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.*3736+29G>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.4401+29G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8381
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2843
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15571
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD

16-2135063-CTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135063
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135061
    reference: chr 16
allele count: 1
allele frequency: 8.347663488989432e-6
allele num: 119794
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1684+41_1684+42delTG
  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.4224+41_4224+42delTG
  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.4569+41_4569+42delTG
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.751+41_751+42delTG
  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.4368+41_4368+42delTG
  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.*3736+41_*3736+42delTG
  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.4440+41_4440+42delTG
  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.4500+41_4500+42delTG
  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.4401+41_4401+42delTG
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2327+41_2327+42delTG
  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.4260+41_4260+42delTG
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8057
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2967
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: CTG
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD

16-2135064-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135064
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135064
    reference: chr 16
allele count: 3
allele frequency: 2.504173622704507e-5
allele num: 119800
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.751+37T>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1684+37T>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2327+37T>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.4440+37T>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4500+37T>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3736+37T>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4224+37T>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4569+37T>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4260+37T>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4368+37T>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.4401+37T>C
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14209
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13090
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8045
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1661
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

16-2135067-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135067
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135067
    reference: chr 16
allele count: 2
allele frequency: 1.670983373715432e-5
allele num: 119690
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.4569+40G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2327+40G>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.4368+40G>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.4500+40G>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.4224+40G>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.4440+40G>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.4401+40G>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.*3736+40G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1684+40G>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.4260+40G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.751+40G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4496
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12511
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11816
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

16-2135071-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135071
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135071
    reference: chr 16
allele count: 339
allele frequency: 2.83335840730154e-3
allele num: 119646
alternate allele: T
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.4569+44C>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.4440+44C>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.4368+44C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2327+44C>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.4500+44C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1684+44C>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.*3736+44C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.751+44C>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.4401+44C>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.4260+44C>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.4224+44C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 4.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 4.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5536
  bin: 2.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 11502
  bin: 2.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 7309
  bin: 3.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5024
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11729
  bin: 3.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
num of homozygotes: 4
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/16-2135073-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135073
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135073
    reference: chr 16
allele count: 4
allele frequency: 3.350139868339503e-5
allele num: 119398
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1684+46C>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.4440+46C>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.751+46C>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.4569+46C>A
  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.4401+46C>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.*3736+46C>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.4500+46C>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2327+46C>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.4224+46C>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.4260+46C>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.4368+46C>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5052
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10920
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

16-2135073-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135073
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135073
    reference: chr 16
allele count: 1
allele frequency: 8.375349670848758e-6
allele num: 119398
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4401+46C>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.*3736+46C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1684+46C>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.4440+46C>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.4500+46C>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.4569+46C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2327+46C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.751+46C>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.4260+46C>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.4368+46C>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.4224+46C>G
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5052
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11008
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

16-2135073-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135073
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135073
    reference: chr 16
allele count: 1231
allele frequency: 1.031005544481482e-2
allele num: 119398
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.751+46C>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.4224+46C>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.4401+46C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1684+46C>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.4260+46C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2327+46C>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.*3736+46C>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.4500+46C>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.4440+46C>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.4368+46C>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.4569+46C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 5.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7102
  bin: 2.25e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 9.75e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 1.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 5052
  bin: 1.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 6.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 10920
  bin: 3.25e1
  variant carriers: 176
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 4.25e1
  variant carriers: 139
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 4.75e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 7091
  bin: 3.75e1
  variant carriers: 178
genotype depth: GenotypeDepth
  all individuals: 11008
  bin: 2.75e1
  variant carriers: 167
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 7.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
num of homozygotes: 17
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP

16-2135074-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135074
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135074
    reference: chr 16
allele count: 692
allele frequency: 5.800697424892704e-3
allele num: 119296
alternate allele: A
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.4569+47G>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.4500+47G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1684+47G>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.*3736+47G>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.4440+47G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.751+47G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2327+47G>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.4224+47G>A
  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.4401+47G>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.4260+47G>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.4368+47G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 5.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 9.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10566
  bin: 3.25e1
  variant carriers: 125
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 8.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 4367
  bin: 4.25e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 5093
  bin: 1.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 4.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 5.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7721
  bin: 2.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 10993
  bin: 2.75e1
  variant carriers: 91
genotype depth: GenotypeDepth
  all individuals: 6911
  bin: 3.75e1
  variant carriers: 94
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 9.75e1
  variant carriers: 54
genotype quality: GenotypeQuality
num of homozygotes: 19
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

16-2135074-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135074
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135074
    reference: chr 16
allele count: 2
allele frequency: 1.676502145922747e-5
allele num: 119296
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3736+47G>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2327+47G>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.4368+47G>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1684+47G>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.4260+47G>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.4500+47G>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.751+47G>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.4440+47G>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.4569+47G>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.4224+47G>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.4401+47G>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4367
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5093
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10993
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

16-2135181-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135181
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135181
    reference: chr 16
allele count: 3
allele frequency: 2.603579053338656e-5
allele num: 115226
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.4501-50C>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.4225-50C>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.4441-50C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1685-50C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2328-50C>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.4402-50C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.752-50C>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.*3737-50C>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.4261-50C>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.4369-50C>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.4570-50C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11180
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6639
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13840
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12498
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

16-2135183-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135183
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135183
    reference: chr 16
allele count: 1
allele frequency: 8.667464073361416e-6
allele num: 115374
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.4225-48T>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.4402-48T>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.4441-48T>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.*3737-48T>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.4369-48T>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2328-48T>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.4501-48T>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.4570-48T>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.4261-48T>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1685-48T>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.752-48T>C
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6099
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6630
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD

16-2135184-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135184
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135184
    reference: chr 16
allele count: 2
allele frequency: 1.733342577827082e-5
allele num: 115384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4369-47C>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.4501-47C>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.4402-47C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1685-47C>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.4261-47C>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.4441-47C>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.*3737-47C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.752-47C>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.4225-47C>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.4570-47C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2328-47C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12672
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6616
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9612
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2633
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

16-2135186-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135186
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135186
    reference: chr 16
allele count: 1
allele frequency: 8.664309974353643e-6
allele num: 115416
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4402-45T>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.4501-45T>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1685-45T>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.4369-45T>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.4225-45T>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.*3737-45T>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.752-45T>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2328-45T>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.4570-45T>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.4441-45T>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.4261-45T>C
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6536
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8770
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6166
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

16-2135187-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135187
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135187
    reference: chr 16
allele count: 2
allele frequency: 1.732801940738174e-5
allele num: 115420
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1685-44G>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.*3737-44G>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.4402-44G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.752-44G>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.4369-44G>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.4225-44G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2328-44G>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.4261-44G>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.4570-44G>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.4441-44G>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.4501-44G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8487
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16217
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6495
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3592
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

16-2135190-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135190
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135190
    reference: chr 16
allele count: 1
allele frequency: 8.643640009680878e-6
allele num: 115692
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.*3737-41G>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.4402-41G>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.4261-41G>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.4441-41G>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.4225-41G>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.4570-41G>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.4501-41G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2328-41G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1685-41G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.752-41G>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.4369-41G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13319
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17563
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6966
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4755
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

16-2135190-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135190
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135190
    reference: chr 16
allele count: 1
allele frequency: 8.643640009680878e-6
allele num: 115692
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4369-41G>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.4261-41G>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2328-41G>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1685-41G>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.4441-41G>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.*3737-41G>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.4570-41G>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.4225-41G>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.752-41G>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.4402-41G>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.4501-41G>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17563
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6966
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

16-2135192-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135192
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135192
    reference: chr 16
allele count: 21
allele frequency: 1.818528204506486e-4
allele num: 115478
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.4261-39C>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.4570-39C>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.*3737-39C>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.4225-39C>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.4402-39C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2328-39C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1685-39C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.752-39C>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.4501-39C>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.4441-39C>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.4369-39C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18260
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5949
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13673
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6096
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6424
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3151
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

16-2135193-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135193
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135193
    reference: chr 16
allele count: 8
allele frequency: 6.917064397869545e-5
allele num: 115656
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.752-38G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1685-38G>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.4501-38G>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.4441-38G>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.4570-38G>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.4402-38G>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.*3737-38G>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.4369-38G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2328-38G>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.4261-38G>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.4225-38G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5662
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13909
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5464
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6509
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18892
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1618
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

16-2135196-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135196
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135196
    reference: chr 16
allele count: 3
allele frequency: 2.584023841926648e-5
allele num: 116098
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4369-35C>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.4501-35C>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.4225-35C>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.4570-35C>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.4441-35C>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.*3737-35C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2328-35C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.752-35C>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.4402-35C>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.4261-35C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1685-35C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4879
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14474
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2867
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD

16-2135197-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135197
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135197
    reference: chr 16
allele count: 2
allele frequency: 1.717091933102098e-5
allele num: 116476
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4441-34G>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.4402-34G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1685-34G>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.*3737-34G>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.4501-34G>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.4261-34G>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.4570-34G>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.4225-34G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2328-34G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.752-34G>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.4369-34G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22555
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14914
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7036
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum

16-2135199-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135199
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135199
    reference: chr 16
allele count: 1
allele frequency: 8.562523546939755e-6
allele num: 116788
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.4570-32C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4501-32C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4369-32C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1685-32C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4261-32C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4225-32C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3737-32C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4402-32C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.752-32C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4441-32C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2328-32C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15127
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2647
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

16-2135200-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135200
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135200
    reference: chr 16
allele count: 1
allele frequency: 8.551247627028784e-6
allele num: 116942
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2328-31T>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.4570-31T>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.4501-31T>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.4441-31T>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.*3737-31T>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.4261-31T>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.4402-31T>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.752-31T>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1685-31T>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.4369-31T>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.4225-31T>C
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6775
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

16-2135204-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135204
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135204
    reference: chr 16
allele count: 1
allele frequency: 8.517597356137781e-6
allele num: 117404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.752-27G>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.4570-27G>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.4402-27G>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.*3737-27G>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.4441-27G>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.4225-27G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2328-27G>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.4501-27G>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.4261-27G>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.4369-27G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1685-27G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6890
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

16-2135207-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135207
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135207
    reference: chr 16
allele count: 2
allele frequency: 1.697360604260375e-5
allele num: 117830
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.4501-24C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.752-24C>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: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1685-24C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4225-24C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4402-24C>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.4441-24C>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.4261-24C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2328-24C>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.4570-24C>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.*3737-24C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4369-24C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25198
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD

16-2135208-A-AGGCAGGGCTCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135208
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135219
    reference: chr 16
allele count: 2
allele frequency: 1.695288792445793e-5
allele num: 117974
alternate allele: AGGCAGGGCTCT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  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
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  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
  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
  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
  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
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  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
  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
  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
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6981
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16432
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

16-2135209-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135209
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135209
    reference: chr 16
allele count: 1
allele frequency: 8.469408496510604e-6
allele num: 118072
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.4501-22G>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.*3737-22G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2328-22G>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.4441-22G>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.4225-22G>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.4369-22G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1685-22G>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.4570-22G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.752-22G>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.4402-22G>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.4261-22G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16504
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7018
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

16-2135211-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135211
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135211
    reference: chr 16
allele count: 1
allele frequency: 8.455658526686058e-6
allele num: 118264
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2328-20C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3737-20C>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.4261-20C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4402-20C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4441-20C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4570-20C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4369-20C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4501-20C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4225-20C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.752-20C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1685-20C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16772
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7077
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2751
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/16-2135216-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135216
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135216
    reference: chr 16
allele count: 2
allele frequency: 1.683303314424226e-5
allele num: 118814
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.4570-15C>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.4369-15C>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.4261-15C>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.4402-15C>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.4501-15C>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.4225-15C>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2328-15C>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.4441-15C>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.*3737-15C>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1685-15C>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.752-15C>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26243
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

16-2135216-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135216
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135216
    reference: chr 16
allele count: 1
allele frequency: 8.41651657212113e-6
allele num: 118814
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.752-15C>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: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1685-15C>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.4441-15C>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.*3737-15C>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: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2328-15C>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.4402-15C>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.4570-15C>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.4501-15C>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.4369-15C>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.4225-15C>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.4261-15C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26243
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

16-2135218-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135218
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135218
    reference: chr 16
allele count: 1
allele frequency: 8.405339071378139e-6
allele num: 118972
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.*3737-13C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2328-13C>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.4501-13C>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.4261-13C>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.4570-13C>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.4369-13C>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.4402-13C>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.4441-13C>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.4225-13C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.752-13C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1685-13C>G
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3076
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7150
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-2135218-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135218
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135218
    reference: chr 16
allele count: 1
allele frequency: 8.405339071378139e-6
allele num: 118972
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4402-13C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1685-13C>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.4225-13C>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.4441-13C>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.4570-13C>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.*3737-13C>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.4261-13C>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.4369-13C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.752-13C>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.4501-13C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2328-13C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7150
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

16-2135220-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135220
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135220
    reference: chr 16
allele count: 2
allele frequency: 1.679289324757762e-5
allele num: 119098
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2328-11G>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.4402-11G>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.4570-11G>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.4501-11G>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.4225-11G>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.4261-11G>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.*3737-11G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1685-11G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.752-11G>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.4441-11G>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.4369-11G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3074
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26501
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17471
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

16-2135225-C-CCACAGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135225
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135231
    reference: chr 16
allele count: 7
allele frequency: 5.866478939340608e-5
allele num: 119322
alternate allele: CCACAGT
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4263_4268dupACAGTC
  hgvsp: ENSP00000399232.2:p.Gln1422_Ser1423dup
  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.4404_4409dupACAGTC
  hgvsp: ENSP00000454487.1:p.Gln1469_Ser1470dup
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2330_2335dupACAGTC
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.754_759dupACAGTC
  hgvsp: ENSP00000455817.1:p.Gln253_Ser254dup
  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.4227_4232dupACAGTC
  hgvsp: ENSP00000371978.6:p.Gln1410_Ser1411dup
  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.4443_4448dupACAGTC
  hgvsp: ENSP00000248099.4:p.Gln1482_Ser1483dup
  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.4503_4508dupACAGTC
  hgvsp: ENSP00000344383.4:p.Gln1502_Ser1503dup
  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.4572_4577dupACAGTC
  hgvsp: ENSP00000219476.3:p.Gln1525_Ser1526dup
  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.4371_4376dupACAGTC
  hgvsp: ENSP00000384468.2:p.Gln1458_Ser1459dup
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1687_1692dupACAGTC
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17716
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26584
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: c.4572_4577dupACAGTC
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum

16-2135227-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135227
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135227
    reference: chr 16
allele count: 1
allele frequency: 8.375770570892522e-6
allele num: 119392
alternate allele: G
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.4402-4A>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4261-4A>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1685-4A>G
  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.4369-4A>G
  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.4570-4A>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2328-4A>G
  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.4441-4A>G
  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.4501-4A>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3737-4A>G
  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.4225-4A>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.752-4A>G
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26574
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.4570-4A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

16-2135230-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2135230
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2135230
    reference: chr 16
allele count: 1
allele frequency: 8.369601606963508e-6
allele num: 119480
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.4441-1G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.4225-1G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*3737-1G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.4570-1G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000497886
  gene symbol: TSC2
  hgvsc: ENST00000497886.1:n.2328-1G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.4402-1G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.4369-1G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000569930
  gene symbol: TSC2
  hgvsc: ENST00000569930.1:n.1685-1G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.4261-1G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000455817
  ensembl transcript: ENST00000569110
  gene symbol: TSC2
  hgvsc: ENST00000569110.1:c.752-1G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.4501-1G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3018
  bin: 7.75e1
  variant carriers: 0
hgvs: c.4570-1G>A
num of homozygotes: 0
reference allele: G

GenotypeDepth
all individuals: 573
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1867
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3735
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18481
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4649
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2727
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3357
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16907
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8263
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65648
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.339e1

DP
type: SiteQuality
SIO_000300: 2.453672e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQRankSum
type: SiteQuality
SIO_000300: 3.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

FS
type: SiteQuality
SIO_000300: 6.796e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.566e0

VQSLOD
type: SiteQuality
SIO_000300: 7.2e-1

GenotypeDepth
all individuals: 3126
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 309
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8263
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3360
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2727
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1864
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18481
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4651
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16908
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3735
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522997258604934e-5
allele num: 65660
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10270
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 7.559721802237678e-4
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

DP
type: SiteQuality
SIO_000300: 2.453955e6

MQRankSum
type: SiteQuality
SIO_000300: -2.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.97e-1

QD
type: SiteQuality
SIO_000300: 1.093e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.274e0

GenotypeDepth
all individuals: 2416
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 16903
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3360
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3737
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1864
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8263
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18483
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4652
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2728
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.241396025206011e-4
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65662
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 8.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.41e-1

DP
type: SiteQuality
SIO_000300: 2.45427e6

VQSLOD
type: SiteQuality
SIO_000300: 6.870000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.54e-1

FS
type: SiteQuality
SIO_000300: 1.93e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQ
type: SiteQuality
SIO_000300: 5.942e1

QD
type: SiteQuality
SIO_000300: 1.236e1

GenotypeDepth
all individuals: 995
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 47
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3333
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1829
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2699
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16807
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 297
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3701
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18355
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8206
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4603
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.257822277847309e-4
allele num: 6392
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65616
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.845e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.67e-1

QD
type: SiteQuality
SIO_000300: 1.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.99e-1

MQ
type: SiteQuality
SIO_000300: 5.888e1

MQRankSum
type: SiteQuality
SIO_000300: 3.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

FS
type: SiteQuality
SIO_000300: 1.37751e2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.617e0

DP
type: SiteQuality
SIO_000300: 2.463147e6

GenotypeDepth
all individuals: 978
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18485
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3360
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1842
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8248
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 290
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4634
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3723
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2711
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16978
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 31
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65674
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.947040498442368e-4
allele num: 10272
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.821999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -1.172e0

QD
type: SiteQuality
SIO_000300: 1.029e1

DP
type: SiteQuality
SIO_000300: 2.460036e6

MQRankSum
type: SiteQuality
SIO_000300: 6.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.657e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e0

GenotypeDepth
all individuals: 3149
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2711
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3360
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3723
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

African
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allele count: 2
allele frequency: 1.947040498442368e-4
allele num: 10272
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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.45e-1

DP
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SIO_000300: 2.459978e6

ReadPosRankSum
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SIO_000300: 1.32e0

ClippingRankSum
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SIO_000300: -1.536e0

InbreedingCoeff
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SIO_000300: -4.0e-4

VQSLOD
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QD
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FS
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SIO_000300: 1.134e0

MQ
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SIO_000300: 5.837e1

MQRankSum
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SIO_000300: 4.15e-1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 12

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 7
allele frequency: 6.813315164492894e-4
allele num: 10274
num of homozygotes: 0

European (Finnish)
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allele count: 35
allele frequency: 5.291805261566375e-3
allele num: 6614
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.158211721102618e-4
allele num: 8634
num of homozygotes: 0

Latino
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allele count: 11
allele frequency: 9.520512376666089e-4
allele num: 11554
num of homozygotes: 0

European (Non-Finnish)
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allele count: 429
allele frequency: 6.531867596455434e-3
allele num: 65678
num of homozygotes: 2

South Asian
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allele count: 155
allele frequency: 9.39166262724188e-3
allele num: 16504
num of homozygotes: 3

Other
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allele frequency: 4.494382022471911e-3
allele num: 890
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DP
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SIO_000300: 2.501298e6

ClippingRankSum
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InbreedingCoeff
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QD
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MQ
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FS
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SIO_000300: 0.0e0

MQRankSum
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VQSLOD
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ReadPosRankSum
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SIO_000300: 1.61e-1

BaseQRankSum
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SIO_000300: 7.48e-1

GenotypeDepth
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variant carriers: 0

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

South Asian
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allele count: 1
allele frequency: 6.17283950617284e-5
allele num: 16200
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64824
num of homozygotes: 0

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

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

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

InbreedingCoeff
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SIO_000300: 5.9e-3

QD
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SIO_000300: 1.03e1

DP
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VQSLOD
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MQ
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FS
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BaseQRankSum
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SIO_000300: 3.5e-1

ReadPosRankSum
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SIO_000300: -1.5e-2

MQRankSum
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SIO_000300: 2.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

GenotypeDepth
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variant carriers: 0

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

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16504
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European (Finnish)
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allele count: 2
allele frequency: 3.102699348433137e-4
allele num: 6446
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.738994935722633e-5
allele num: 10268
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.523647001462701e-5
allele num: 65632
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.3e-1

MQ
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SIO_000300: 5.861e1

QD
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MQRankSum
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ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 4.2865e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

BaseQRankSum
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SIO_000300: -2.702e0

DP
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SIO_000300: 2.460795e6

VQSLOD
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SIO_000300: -1.037e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 8
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522718966987453e-5
allele num: 65672
num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.947419668938656e-4
allele num: 10270
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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InbreedingCoeff
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SIO_000300: 1.0e-3

BaseQRankSum
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FS
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VQSLOD
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DP
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MQ
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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QD
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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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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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allele count: 1
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allele num: 10270
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Other
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Latino
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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
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allele num: 65670
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South Asian
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DP
type: SiteQuality
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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QD
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InbreedingCoeff
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MQRankSum
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FS
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ReadPosRankSum
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MQ
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GenotypeDepth
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variant carriers: 17

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

European (Finnish)
type: Population
allele count: 15
allele frequency: 2.267916540671303e-3
allele num: 6614
num of homozygotes: 0

African
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allele count: 7
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allele num: 10270
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East Asian
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European (Non-Finnish)
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allele frequency: 4.09648828922121e-3
allele num: 65666
num of homozygotes: 0

Other
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allele frequency: 2.247191011235955e-3
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Latino
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allele frequency: 6.060606060606061e-4
allele num: 11550
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South Asian
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FS
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MQRankSum
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QD
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MQ
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InbreedingCoeff
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VQSLOD
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DP
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.522811719558994e-5
allele num: 65668
num of homozygotes: 0

Other
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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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

FS
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SIO_000300: 8.368e0

InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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SIO_000300: 6.929999999999999e-1

QD
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MQ
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ReadPosRankSum
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VQSLOD
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DP
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SIO_000300: 2.453064e6

GenotypeDepth
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variant carriers: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.046087300862043e-5
allele num: 65658
num of homozygotes: 0

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

African
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allele frequency: 9.738994935722633e-5
allele num: 10268
num of homozygotes: 0

East Asian
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MQRankSum
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SIO_000300: -1.386e0

BaseQRankSum
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QD
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InbreedingCoeff
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DP
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VQSLOD
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ClippingRankSum
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FS
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SIO_000300: 5.1331e1

MQ
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ReadPosRankSum
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SIO_000300: 2.87e-1

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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African
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allele count: 0
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num of homozygotes: 0

South Asian
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allele num: 16504
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.523647001462701e-5
allele num: 65632
num of homozygotes: 0

European (Finnish)
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MQRankSum
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DP
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ClippingRankSum
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BaseQRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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FS
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SIO_000300: 5.3361e1

QD
type: SiteQuality
SIO_000300: 9.7e-1

GenotypeDepth
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

African
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allele count: 0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.522394421946838e-5
allele num: 65686
num of homozygotes: 0

South Asian
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BaseQRankSum
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SIO_000300: 2.71e0

MQ
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SIO_000300: 5.911e1

ReadPosRankSum
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SIO_000300: 2.59e0

MQRankSum
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InbreedingCoeff
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VQSLOD
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QD
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DP
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ClippingRankSum
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SIO_000300: 9.48e-1

FS
type: SiteQuality
SIO_000300: 6.72e-1

GenotypeDepth
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variant carriers: 31

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 225

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 8

East Asian
type: Population
allele count: 39
allele frequency: 4.763067904250122e-3
allele num: 8188
num of homozygotes: 0

Latino
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allele count: 21
allele frequency: 1.920614596670935e-3
allele num: 10934
num of homozygotes: 0

Other
type: Population
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allele frequency: 7.462686567164179e-3
allele num: 804
num of homozygotes: 0

European (Non-Finnish)
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allele count: 222
allele frequency: 3.62911135813771e-3
allele num: 61172
num of homozygotes: 0

African
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allele frequency: 5.316742081447964e-3
allele num: 8840
num of homozygotes: 0

European (Finnish)
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allele frequency: 1.081282624906786e-2
allele num: 5364
num of homozygotes: 0

South Asian
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allele frequency: 5.5005500550055e-4
allele num: 16362
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InbreedingCoeff
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QD
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ClippingRankSum
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BaseQRankSum
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MQ
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VQSLOD
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MQRankSum
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DP
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FS
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8188
num of homozygotes: 0

European (Non-Finnish)
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allele num: 61172
num of homozygotes: 0

European (Finnish)
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South Asian
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Latino
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African
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Other
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QD
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MQ
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BaseQRankSum
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InbreedingCoeff
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DP
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MQRankSum
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ClippingRankSum
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VQSLOD
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FS
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.72951936174353e-5
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num of homozygotes: 0

European (Non-Finnish)
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num of homozygotes: 0

East Asian
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Latino
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Other
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European (Finnish)
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FS
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DP
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BaseQRankSum
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QD
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ReadPosRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 7.611045148719823e-5
allele num: 65694
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
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

Other
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allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

QD
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SIO_000300: 1.356e1

ReadPosRankSum
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BaseQRankSum
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MQRankSum
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SIO_000300: 8.070000000000001e-1

DP
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SIO_000300: 2.431506e6

InbreedingCoeff
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SIO_000300: -5.999999999999999e-4

FS
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SIO_000300: 1.281e0

ClippingRankSum
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SIO_000300: -2.0e-2

MQ
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SIO_000300: 5.903e1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 10

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

East Asian
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allele count: 4
allele frequency: 4.631773969430292e-4
allele num: 8636
num of homozygotes: 0

African
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allele count: 2
allele frequency: 1.947419668938656e-4
allele num: 10270
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.658008658008658e-5
allele num: 11550
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.045623439117987e-5
allele num: 65668
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.79e-1

MQ
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SIO_000300: 5.947e1

FS
type: SiteQuality
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InbreedingCoeff
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QD
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VQSLOD
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BaseQRankSum
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DP
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SIO_000300: 2.43083e6

MQRankSum
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SIO_000300: 3.03e-1

ClippingRankSum
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SIO_000300: -3.74e-1

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

South Asian
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allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

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

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

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

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

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

DP
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SIO_000300: 2.429828e6

QD
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BaseQRankSum
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SIO_000300: 3.2e0

VQSLOD
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FS
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SIO_000300: 0.0e0

InbreedingCoeff
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MQ
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SIO_000300: 6.0e1

MQRankSum
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SIO_000300: -3.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.42e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.732801940738174e-4
allele num: 11542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523600572873815e-5
allele num: 65634
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.462e0

MQ
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SIO_000300: 5.941e1

VQSLOD
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FS
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QD
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SIO_000300: 1.207e1

MQRankSum
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SIO_000300: -8.93e-1

DP
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InbreedingCoeff
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SIO_000300: 1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 25
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
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African
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East Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 65624
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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BaseQRankSum
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DP
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FS
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VQSLOD
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QD
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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MQ
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

East Asian
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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 frequency: 1.523972080831479e-5
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num of homozygotes: 0

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.573589047778761e-5
allele num: 65594
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.78e-1

VQSLOD
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BaseQRankSum
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SIO_000300: -2.737e0

MQRankSum
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SIO_000300: 6.889999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

QD
type: SiteQuality
SIO_000300: 1.339e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.54e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

DP
type: SiteQuality
SIO_000300: 2.426075e6

GenotypeQuality
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bin: 9.25e1
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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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10252
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65546
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.892e1

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -9.392e-1

ClippingRankSum
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SIO_000300: 5.21e-1

DP
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BaseQRankSum
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SIO_000300: -2.972e0

MQRankSum
type: SiteQuality
SIO_000300: -1.366e0

FS
type: SiteQuality
SIO_000300: 1.659e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.237e1

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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bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52587890625e-5
allele num: 65536
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.98e0

MQ
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SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.493e0

InbreedingCoeff
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SIO_000300: 3.2e-3

VQSLOD
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SIO_000300: -7.742e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

MQRankSum
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SIO_000300: -1.135e0

QD
type: SiteQuality
SIO_000300: 1.793e1

DP
type: SiteQuality
SIO_000300: 2.416461e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.71e-1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526065193505067e-5
allele num: 65528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.414619e6

BaseQRankSum
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SIO_000300: -4.69e0

InbreedingCoeff
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SIO_000300: 3.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.85e-1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.651e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.49e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65528
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10246
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

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

QD
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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MQRankSum
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FS
type: SiteQuality
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ReadPosRankSum
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DP
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SIO_000300: 2.414619e6

BaseQRankSum
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SIO_000300: -4.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.85e-1

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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 4.880905896134322e-4
allele num: 10244
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526950679493052e-5
allele num: 65490
num of homozygotes: 0

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

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

South Asian
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allele count: 0
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
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SIO_000300: 4.14e0

BaseQRankSum
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MQ
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InbreedingCoeff
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DP
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MQRankSum
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QD
type: SiteQuality
SIO_000300: 1.47e1

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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10244
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.601005722212589e-4
allele num: 11534
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65496
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.94e-1

FS
type: SiteQuality
SIO_000300: 6.025e0

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
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MQ
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SIO_000300: 6.0e1

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

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

African
type: Population
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: 8628
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65432
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.6e0

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.027e1

ClippingRankSum
type: SiteQuality
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FS
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 1.7e-3

DP
type: SiteQuality
SIO_000300: 2.360895e6

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

QD
type: SiteQuality
SIO_000300: 1.504e1

GenotypeQuality
all individuals: 54
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3011
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16305
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1235
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4376
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7314
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2590
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15892
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3570
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1139
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 622
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 5.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10234
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.584632312488538e-5
allele num: 65436
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.662e0

QD
type: SiteQuality
SIO_000300: 1.359e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

FS
type: SiteQuality
SIO_000300: 1.735e0

MQRankSum
type: SiteQuality
SIO_000300: -9.54e-1

DP
type: SiteQuality
SIO_000300: 2.359993e6

VQSLOD
type: SiteQuality
SIO_000300: 3.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.37e-1

GenotypeQuality
all individuals: 4280
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1039
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6283
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1118
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1584
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 970
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1718
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 353
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variant carriers: 0

GenotypeQuality
all individuals: 806
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2138
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3551
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1657
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2586
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15890
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2868
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.530175052025952e-5
allele num: 65352
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.777082518576456e-5
allele num: 10228
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.715e0

VQSLOD
type: SiteQuality
SIO_000300: 4.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

DP
type: SiteQuality
SIO_000300: 2.314719e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

QD
type: SiteQuality
SIO_000300: 1.436e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.69e-1

GenotypeDepth
all individuals: 759
bin: 6.75e1
variant carriers: 5

GenotypeDepth
all individuals: 1128
bin: 5.75e1
variant carriers: 8

GenotypeQuality
all individuals: 349
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2330
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1648
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1319
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6094
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1653
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2811
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2557
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 987
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 768
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 16121
bin: 9.75e1
variant carriers: 333

GenotypeQuality
all individuals: 3524
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1226
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2170
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12188
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4209
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 322
allele frequency: 3.151918559122945e-2
allele num: 10216
num of homozygotes: 4

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.59150876978175e-5
allele num: 65338
num of homozygotes: 0

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

Latino
type: Population
allele count: 14
allele frequency: 1.21654501216545e-3
allele num: 11508
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.300528e6

VQSLOD
type: SiteQuality
SIO_000300: 5.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.72e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.636e0

MQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.54e-1

QD
type: SiteQuality
SIO_000300: 1.494e1

GenotypeDepth
all individuals: 7102
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 676
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10304
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2481
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2789
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16615
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2467
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1623
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1705
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2731
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 131
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1889
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3449
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1538
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5828
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 950
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4087
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.13704010555709e-5
allele num: 65178
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10190
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.03e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.43e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

DP
type: SiteQuality
SIO_000300: 2.283857e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.55e-1

QD
type: SiteQuality
SIO_000300: 1.53e1

GenotypeDepth
all individuals: 1109
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 676
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1889
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16615
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 950
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5828
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3449
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2481
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1538
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1705
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10304
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2731
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1623
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2789
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2467
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4087
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65178
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.076072426783327e-5
allele num: 16458
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.283857e6

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.55e-1

QD
type: SiteQuality
SIO_000300: 1.53e1

VQSLOD
type: SiteQuality
SIO_000300: 5.64e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.43e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 1709
bin: 5.25e1
variant carriers: 90

GenotypeDepth
all individuals: 757
bin: 6.75e1
variant carriers: 30

GenotypeQuality
all individuals: 2731
bin: 7.25e1
variant carriers: 6

GenotypeQuality
all individuals: 1705
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3449
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5828
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4087
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 350
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2789
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 10304
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 123
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2481
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1889
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 950
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1538
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 131
bin: 1.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2467
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1623
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 16615
bin: 9.75e1
variant carriers: 1204

East Asian
type: Population
allele count: 1
allele frequency: 1.16144018583043e-4
allele num: 8610
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 40
allele frequency: 6.073489219556636e-3
allele num: 6586
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 1051
allele frequency: 1.612507287735125e-2
allele num: 65178
num of homozygotes: 14

Latino
type: Population
allele count: 52
allele frequency: 4.526462395543176e-3
allele num: 11488
num of homozygotes: 0

African
type: Population
allele count: 25
allele frequency: 2.453385672227674e-3
allele num: 10190
num of homozygotes: 0

South Asian
type: Population
allele count: 55
allele frequency: 3.34183983473083e-3
allele num: 16458
num of homozygotes: 2

Other
type: Population
allele count: 7
allele frequency: 7.882882882882882e-3
allele num: 888
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.43e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.03e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.64e0

QD
type: SiteQuality
SIO_000300: 1.53e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.55e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.283857e6

GenotypeDepth
all individuals: 552
bin: 8.75e1
variant carriers: 4

GenotypeDepth
all individuals: 732
bin: 7.25e1
variant carriers: 6

GenotypeQuality
all individuals: 2242
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 3082
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3454
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 16207
bin: 9.75e1
variant carriers: 666

GenotypeQuality
all individuals: 503
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 946
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1617
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1747
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4097
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 162
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1643
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2501
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2579
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9821
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2729
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 829
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5775
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 34
allele frequency: 5.222092523192234e-4
allele num: 65108
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.257336343115124e-3
allele num: 886
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

African
type: Population
allele count: 611
allele frequency: 6.011412829594648e-2
allele num: 10164
num of homozygotes: 19

Latino
type: Population
allele count: 41
allele frequency: 3.567078475726466e-3
allele num: 11494
num of homozygotes: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.430724355858046e-4
allele num: 16456
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

DP
type: SiteQuality
SIO_000300: 2.27132e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.725e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.71e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.48e-1

GenotypeDepth
all individuals: 737
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6911
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 366
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2579
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65108
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.215362177929023e-4
allele num: 16456
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

MQ
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SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: 4.71e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.63e0

BaseQRankSum
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SIO_000300: 5.5e-1

DP
type: SiteQuality
SIO_000300: 2.27132e6

MQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

QD
type: SiteQuality
SIO_000300: 1.725e1

GenotypeQuality
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bin: 9.25e1
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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16290
num of homozygotes: 0

Other
type: Population
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: 8246
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62776
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9700
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.824702476680605e-4
allele num: 6218
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.06e0

MQRankSum
type: SiteQuality
SIO_000300: 1.43e0

VQSLOD
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SIO_000300: -8.075e-1

DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.074e0

MQ
type: SiteQuality
SIO_000300: 5.903e1

QD
type: SiteQuality
SIO_000300: 1.397e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

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

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: 8278
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9716
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6226
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.946144211844694e-5
allele num: 11178
num of homozygotes: 0

Other
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
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num of homozygotes: 0

BaseQRankSum
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SIO_000300: -2.523e0

MQRankSum
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SIO_000300: 1.61e0

QD
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ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: 1.8e-3

ReadPosRankSum
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SIO_000300: -1.478e0

DP
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SIO_000300: 1.472021e6

FS
type: SiteQuality
SIO_000300: 7.635e0

VQSLOD
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SIO_000300: -1.555e0

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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variant carriers: 2

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16308
num of homozygotes: 0

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

Other
type: Population
allele count: 0
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: 8270
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.787949222242088e-4
allele num: 11186
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6228
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62838
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.75e-1

FS
type: SiteQuality
SIO_000300: 3.624e0

DP
type: SiteQuality
SIO_000300: 1.475335e6

BaseQRankSum
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SIO_000300: -1.087e0

VQSLOD
type: SiteQuality
SIO_000300: -2.616e-1

InbreedingCoeff
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SIO_000300: 2.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-2

QD
type: SiteQuality
SIO_000300: 1.679e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.25e-1

MQ
type: SiteQuality
SIO_000300: 5.907e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9710
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11190
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.134969325153375e-5
allele num: 16300
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62874
num of homozygotes: 0

DP
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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QD
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FS
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ReadPosRankSum
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MQRankSum
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VQSLOD
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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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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62894
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6234
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11186
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
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

African
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allele count: 2
allele frequency: 2.061005770816158e-4
allele num: 9704
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8266
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.63e-1

InbreedingCoeff
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FS
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BaseQRankSum
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MQ
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MQRankSum
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QD
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DP
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9742
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.586747485005236e-5
allele num: 63022
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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num of homozygotes: 0

East Asian
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South Asian
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num of homozygotes: 0

QD
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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MQ
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ClippingRankSum
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BaseQRankSum
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FS
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VQSLOD
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InbreedingCoeff
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DP
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GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
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allele num: 844
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8294
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9742
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.586747485005236e-5
allele num: 63022
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11198
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

VQSLOD
type: SiteQuality
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MQ
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SIO_000300: 5.967e1

DP
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SIO_000300: 1.498413e6

FS
type: SiteQuality
SIO_000300: 4.443e0

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.746e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.815e0

QD
type: SiteQuality
SIO_000300: 9.41e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 21

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
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allele count: 1
allele frequency: 1.028171910343409e-4
allele num: 9726
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6252
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62930
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11168
num of homozygotes: 0

South Asian
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allele count: 18
allele frequency: 1.105108055009823e-3
allele num: 16288
num of homozygotes: 0

East Asian
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allele count: 2
allele frequency: 2.418964683115626e-4
allele num: 8268
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.982e1

InbreedingCoeff
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SIO_000300: 1.5e-3

ClippingRankSum
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SIO_000300: -3.0e-1

QD
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FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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SIO_000300: 2.89e0

BaseQRankSum
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SIO_000300: -1.459e0

MQRankSum
type: SiteQuality
SIO_000300: -1.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e-1

DP
type: SiteQuality
SIO_000300: 1.509758e6

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: 8

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11194
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6268
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 7
allele frequency: 1.110687991876111e-4
allele num: 63024
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.129704548240775e-5
allele num: 16314
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQRankSum
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DP
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SIO_000300: 1.51806e6

QD
type: SiteQuality
SIO_000300: 1.455e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.47e-1

FS
type: SiteQuality
SIO_000300: 6.289e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.55e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8314
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.025010250102501e-4
allele num: 9756
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.579778830963665e-5
allele num: 63300
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6300
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.121449559255632e-5
allele num: 16336
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.902e0

DP
type: SiteQuality
SIO_000300: 1.537474e6

MQ
type: SiteQuality
SIO_000300: 5.985e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

MQRankSum
type: SiteQuality
SIO_000300: 1.96e-1

FS
type: SiteQuality
SIO_000300: 1.159e0

QD
type: SiteQuality
SIO_000300: 9.880000000000001e0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8350
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6332
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.14821810855056e-5
allele num: 63528
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.19e-1

DP
type: SiteQuality
SIO_000300: 1.55998e6

QD
type: SiteQuality
SIO_000300: 1.14e1

BaseQRankSum
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FS
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SIO_000300: 4.385e0

MQ
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SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 2.7e-3

ReadPosRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

GenotypeQuality
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variant carriers: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6350
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11298
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.570105197048202e-5
allele num: 63690
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9822
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.578e0

InbreedingCoeff
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SIO_000300: 2.4e-3

VQSLOD
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ClippingRankSum
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DP
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QD
type: SiteQuality
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MQ
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -8.3e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11300
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16376
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6372
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 count: 1
allele frequency: 1.016880211511084e-4
allele num: 9834
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63780
num of homozygotes: 0

Other
type: Population
allele count: 0
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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QD
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MQ
type: SiteQuality
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FS
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MQRankSum
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ReadPosRankSum
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DP
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VQSLOD
type: SiteQuality
SIO_000300: 1.42e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6402
num of homozygotes: 0

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

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

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

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

Other
type: Population
allele count: 1
allele frequency: 1.165501165501166e-3
allele num: 858
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64054
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.21e0

BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.945e1

InbreedingCoeff
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ClippingRankSum
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FS
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DP
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ReadPosRankSum
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QD
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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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GenotypeQuality
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South Asian
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.109646122271286e-5
allele num: 64316
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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InbreedingCoeff
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MQ
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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QD
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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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East Asian
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allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.105975897627034e-5
allele num: 64392
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 frequency: 0.0e0
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FS
type: SiteQuality
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DP
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ReadPosRankSum
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MQ
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VQSLOD
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MQRankSum
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ClippingRankSum
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QD
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -3.0e-4

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

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64454
num of homozygotes: 0

South Asian
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Other
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allele frequency: 1.152073732718894e-3
allele num: 868
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African
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allele count: 0
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Latino
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allele frequency: 0.0e0
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MQ
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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VQSLOD
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FS
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DP
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QD
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ReadPosRankSum
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InbreedingCoeff
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Other
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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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South Asian
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allele frequency: 6.083465141744738e-5
allele num: 16438
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64584
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

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

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

DP
type: SiteQuality
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MQ
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VQSLOD
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BaseQRankSum
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FS
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 64930
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South Asian
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Other
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African
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allele frequency: 1.986491855383393e-4
allele num: 10068
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
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DP
type: SiteQuality
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VQSLOD
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QD
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ClippingRankSum
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ReadPosRankSum
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FS
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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Latino
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European (Non-Finnish)
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allele num: 64930
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African
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Other
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European (Finnish)
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ClippingRankSum
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QD
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FS
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InbreedingCoeff
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MQRankSum
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VQSLOD
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MQ
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BaseQRankSum
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DP
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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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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
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allele num: 6512
num of homozygotes: 0

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

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

Latino
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allele count: 0
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African
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Other
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European (Finnish)
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South Asian
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East Asian
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

MQRankSum
type: SiteQuality
SIO_000300: 7.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.96e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

DP
type: SiteQuality
SIO_000300: 1.637688e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.77e-1

FS
type: SiteQuality
SIO_000300: 3.011e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

QD
type: SiteQuality
SIO_000300: 1.638e1

GenotypeQuality
all individuals: 179
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2776
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3003
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4765
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 31
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 906
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2151
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7732
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1293
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35846
bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.073424101791806e-5
allele num: 65074
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.802e0

QD
type: SiteQuality
SIO_000300: 1.183e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.26e-1

DP
type: SiteQuality
SIO_000300: 1.640764e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.51e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.26e-1

GenotypeDepth
all individuals: 165
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 135
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1809
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2151
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1296
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7760
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2796
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 906
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4766
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 454
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36295
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3020
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10154
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65186
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.246542101431691e-4
allele num: 16484
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 8.003e0

MQRankSum
type: SiteQuality
SIO_000300: -4.745e0

DP
type: SiteQuality
SIO_000300: 1.647192e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.08e0

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

MQ
type: SiteQuality
SIO_000300: 5.034e1

QD
type: SiteQuality
SIO_000300: 8.609999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-1

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 220
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 906
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2802
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2152
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3018
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4765
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 89
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1296
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7793
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36395
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65222
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10160
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.079e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e-1

DP
type: SiteQuality
SIO_000300: 1.648305e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-2

FS
type: SiteQuality
SIO_000300: 1.346e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.08e-1

QD
type: SiteQuality
SIO_000300: 8.460000000000001e0

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 36570
bin: 6.25e1
variant carriers: 0