17-78795985-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78795985
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78795985
    reference: chr 17
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.378-16G>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.336-16G>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.891-16G>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1690-16G>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*520-16G>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.891-16G>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.891-16G>T
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14469
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4028
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4135
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2474
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3228
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49040
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

17-78795987-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78795987
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78795987
    reference: chr 17
allele count: 4
allele frequency: 3.296685183048445e-5
allele num: 121334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.891-14C>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*520-14C>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.378-14C>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1690-14C>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.891-14C>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.336-14C>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.891-14C>G
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2474
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14468
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4028
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49039
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

17-78795992-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78795992
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78795992
    reference: chr 17
allele count: 2
allele frequency: 1.648070932972955e-5
allele num: 121354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.891-9G>C
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*520-9G>C
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.891-9G>C
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.891-9G>C
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.378-9G>C
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.336-9G>C
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1690-9G>C
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14465
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4028
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1880
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49039
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4032
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

17-78795997-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78795997
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78795997
    reference: chr 17
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.891-4C>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.891-4C>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.891-4C>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.336-4C>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.378-4C>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*520-4C>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1690-4C>G
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3775
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4028
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14464
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49039
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1878
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
hgvs: c.891-4C>G
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum

17-78796011-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796011
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796011
    reference: chr 17
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.901C>T
  hgvsp: ENSP00000307272.3:p.Arg301Cys
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.388C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*530C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.901C>T
  hgvsp: ENSP00000442479.2:p.Arg301Cys
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1700C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.901C>T
  hgvsp: ENSP00000460136.1:p.Arg301Cys
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.346C>T
  hgvsp: ENSP00000440947.1:p.Arg116Cys
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4028
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14463
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3228
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1889
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49040
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg301Cys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP

17-78796019-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796019
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796019
    reference: chr 17
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.909C>T
  hgvsp: ENST00000544334.2:c.909C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1708C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*538C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.909C>T
  hgvsp: ENST00000570891.1:c.909C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.909C>T
  hgvsp: ENST00000306801.3:c.909C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.396C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.354C>T
  hgvsp: ENST00000537330.1:c.354C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4028
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14462
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4074
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49040
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn303Asn
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

17-78796020-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796020
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796020
    reference: chr 17
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.910G>A
  hgvsp: ENSP00000442479.2:p.Asp304Asn
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.397G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.910G>A
  hgvsp: ENSP00000307272.3:p.Asp304Asn
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.910G>A
  hgvsp: ENSP00000460136.1:p.Asp304Asn
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*539G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1709G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.355G>A
  hgvsp: ENSP00000440947.1:p.Asp119Asn
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2840
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14461
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4028
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4143
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4063
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp304Asn
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-78796022-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796022
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796022
    reference: chr 17
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.912C>T
  hgvsp: ENST00000306801.3:c.912C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1711C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*541C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.399C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.912C>T
  hgvsp: ENST00000570891.1:c.912C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.912C>T
  hgvsp: ENST00000544334.2:c.912C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.357C>T
  hgvsp: ENST00000537330.1:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4028
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2869
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14461
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp304Asp
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

17-78796028-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796028
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796028
    reference: chr 17
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.918G>A
  hgvsp: ENST00000570891.1:c.918G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.405G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.918G>A
  hgvsp: ENST00000306801.3:c.918G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.363G>A
  hgvsp: ENST00000537330.1:c.363G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1717G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.918G>A
  hgvsp: ENST00000544334.2:c.918G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*547G>A
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4029
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14461
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4143
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg306Arg
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum

17-78796031-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796031
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796031
    reference: chr 17
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.921G>A
  hgvsp: ENST00000544334.2:c.921G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*550G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1720G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.366G>A
  hgvsp: ENST00000537330.1:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.921G>A
  hgvsp: ENST00000306801.3:c.921G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.921G>A
  hgvsp: ENST00000570891.1:c.921G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.408G>A
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4029
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14460
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr307Thr
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

17-78796034-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796034
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796034
    reference: chr 17
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.924C>T
  hgvsp: ENST00000570891.1:c.924C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.369C>T
  hgvsp: ENST00000537330.1:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.924C>T
  hgvsp: ENST00000544334.2:c.924C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1723C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.411C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*553C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.924C>T
  hgvsp: ENST00000306801.3:c.924C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14459
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro308Pro
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/17-78796079-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796079
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796079
    reference: chr 17
allele count: 28
allele frequency: 2.308098127143234e-4
allele num: 121312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.456C>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.969C>A
  hgvsp: ENST00000570891.1:c.969C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.414C>A
  hgvsp: ENST00000537330.1:c.414C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.969C>A
  hgvsp: ENST00000306801.3:c.969C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*598C>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1768C>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.969C>A
  hgvsp: ENST00000544334.2:c.969C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14460
  bin: 9.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2474
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4144
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile323Ile
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

17-78796081-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796081
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796081
    reference: chr 17
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.971C>T
  hgvsp: ENSP00000460136.1:p.Ala324Val
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.416C>T
  hgvsp: ENSP00000440947.1:p.Ala139Val
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.971C>T
  hgvsp: ENSP00000442479.2:p.Ala324Val
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.971C>T
  hgvsp: ENSP00000307272.3:p.Ala324Val
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*600C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.458C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1770C>T
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3829
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4032
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2869
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3338
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14437
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1361
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala324Val
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

17-78796082-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796082
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796082
    reference: chr 17
allele count: 4
allele frequency: 3.297554863069035e-5
allele num: 121302
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1771G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.972G>A
  hgvsp: ENST00000544334.2:c.972G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*601G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.459G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.972G>A
  hgvsp: ENST00000570891.1:c.972G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.417G>A
  hgvsp: ENST00000537330.1:c.417G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.972G>A
  hgvsp: ENST00000306801.3:c.972G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4032
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3338
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14436
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3829
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1870
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49037
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala324Ala
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

17-78796089-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796089
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796089
    reference: chr 17
allele count: 1
allele frequency: 8.248511143738554e-6
allele num: 121234
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.979G>A
  hgvsp: ENSP00000307272.3:p.Val327Met
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.979G>A
  hgvsp: ENSP00000442479.2:p.Val327Met
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.466G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.979G>A
  hgvsp: ENSP00000460136.1:p.Val327Met
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*608G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1778G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.424G>A
  hgvsp: ENSP00000440947.1:p.Val142Met
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3777
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14433
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4033
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3829
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3338
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3664
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val327Met
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD

17-78796092-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796092
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796092
    reference: chr 17
allele count: 2
allele frequency: 1.649702228747711e-5
allele num: 121234
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.427C>G
  hgvsp: ENSP00000440947.1:p.Leu143Val
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.982C>G
  hgvsp: ENSP00000307272.3:p.Leu328Val
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.982C>G
  hgvsp: ENSP00000460136.1:p.Leu328Val
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*611C>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.982C>G
  hgvsp: ENSP00000442479.2:p.Leu328Val
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.469C>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1781C>G
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3777
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14432
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3830
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4033
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3338
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu328Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/17-78796094-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796094
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796094
    reference: chr 17
allele count: 1
allele frequency: 8.249736008447729e-6
allele num: 121216
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1783C>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.429C>A
  hgvsp: ENST00000537330.1:c.429C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*613C>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.984C>A
  hgvsp: ENST00000570891.1:c.984C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.984C>A
  hgvsp: ENST00000544334.2:c.984C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.471C>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.984C>A
  hgvsp: ENST00000306801.3:c.984C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3777
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3338
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3830
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14431
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4033
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49035
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu328Leu
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum

17-78796098-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796098
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796098
    reference: chr 17
allele count: 2
allele frequency: 1.650818806127839e-5
allele num: 121152
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*617C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.988C>T
  hgvsp: ENSP00000307272.3:p.Arg330Trp
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.433C>T
  hgvsp: ENSP00000440947.1:p.Arg145Trp
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.475C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.988C>T
  hgvsp: ENSP00000442479.2:p.Arg330Trp
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.988C>T
  hgvsp: ENSP00000460136.1:p.Arg330Trp
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1787C>T
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3777
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4033
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3338
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14432
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3830
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg330Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ

17-78796108-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796108
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796108
    reference: chr 17
allele count: 4
allele frequency: 3.303546357014255e-5
allele num: 121082
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.478+7C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.991+7C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.436+7C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1790+7C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.991+7C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*620+7C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.991+7C>T
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4032
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3338
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2476
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3777
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14433
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3460
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1744
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
hgvs: c.991+7C>T
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

17-78796109-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796109
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796109
    reference: chr 17
allele count: 3
allele frequency: 2.477905344015859e-5
allele num: 121070
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.478+8G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.991+8G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.436+8G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.991+8G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.991+8G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*620+8G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1790+8G>A
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3338
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2786
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4032
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3777
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14431
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3829
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: c.991+8G>A
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

17-78796110-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796110
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796110
    reference: chr 17
allele count: 7
allele frequency: 5.782065684266174e-5
allele num: 121064
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.478+9C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*620+9C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.436+9C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.991+9C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1790+9C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.991+9C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.991+9C>T
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3829
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14430
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4145
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4032
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3338
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49032
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

17-78796111-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796111
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796111
    reference: chr 17
allele count: 21
allele frequency: 1.734619705279852e-4
allele num: 121064
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1790+10G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.478+10G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.991+10G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.991+10G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*620+10G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.436+10G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.991+10G>A
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14426
  bin: 9.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4033
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3338
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3829
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1747
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS

17-78796113-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796113
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796113
    reference: chr 17
allele count: 1
allele frequency: 8.262141216517673e-6
allele num: 121034
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.991+12G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.478+12G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.436+12G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.991+12G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.991+12G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1790+12G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*620+12G>A
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 14409
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3832
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2774
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3340
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3778
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4036
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1728
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

17-78796115-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796115
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796115
    reference: chr 17
allele count: 1
allele frequency: 8.263233568560049e-6
allele num: 121018
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.478+14C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.991+14C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1790+14C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*620+14C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.991+14C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.436+14C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.991+14C>T
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14408
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2774
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3340
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3833
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3778
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3438
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1732
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-78796122-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796122
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796121
    reference: chr 17
allele count: 3
allele frequency: 2.48032277267015e-5
allele num: 120952
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.991+25delG
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.436+25delG
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.991+25delG
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.991+25delG
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*620+25delG
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.478+25delG
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1790+25delG
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4036
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3833
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14408
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3778
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3340
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3371
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: TG
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff

17-78796126-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796126
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796126
    reference: chr 17
allele count: 2
allele frequency: 1.653986106516705e-5
allele num: 120920
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.478+25G>C
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*620+25G>C
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.991+25G>C
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.991+25G>C
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1790+25G>C
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.991+25G>C
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.436+25G>C
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3778
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3340
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3833
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14406
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3328
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1706
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum

17-78796132-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796132
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796132
    reference: chr 17
allele count: 1
allele frequency: 8.275816409288777e-6
allele num: 120834
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*620+31G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.478+31G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.436+31G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.991+31G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.991+31G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.991+31G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1790+31G>A
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4036
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3833
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3779
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3340
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14405
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1675
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

17-78796133-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796133
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796133
    reference: chr 17
allele count: 1411
allele frequency: 1.167969008674922e-2
allele num: 120808
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.991+32G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*620+32G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.991+32G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.436+32G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.478+32G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.991+32G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1790+32G>A
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 7.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 8.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 5.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 6.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 8.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 14371
  bin: 9.75e1
  variant carriers: 1024
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 7.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2774
  bin: 5.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2642
  bin: 3.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 9.25e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 3780
  bin: 6.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 4.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 12
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

17-78796134-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796134
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796134
    reference: chr 17
allele count: 2
allele frequency: 1.65582103886212e-5
allele num: 120786
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.991+33C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.991+33C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.991+33C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.478+33C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.436+33C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*620+33C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1790+33C>T
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3888
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13689
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1280
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48932
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

17-78796136-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796136
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796136
    reference: chr 17
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.991+35A>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.991+35A>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.436+35A>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*620+35A>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1790+35A>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.478+35A>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.991+35A>G
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3888
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13689
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3074
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: A
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

17-78796138-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796138
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796138
    reference: chr 17
allele count: 1
allele frequency: 8.286789200656313e-6
allele num: 120674
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.991+37G>C
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.478+37G>C
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.991+37G>C
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.991+37G>C
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*620+37G>C
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1790+37G>C
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.436+37G>C
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13688
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3888
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2843
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-78796141-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796141
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796141
    reference: chr 17
allele count: 44
allele frequency: 3.650785748659995e-4
allele num: 120522
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.991+40C>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1790+40C>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.478+40C>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.991+40C>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.991+40C>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*620+40C>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.436+40C>A
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3887
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4232
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3285
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13687
  bin: 9.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

17-78796141-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796141
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796141
    reference: chr 17
allele count: 1
allele frequency: 8.297240337863626e-6
allele num: 120522
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1790+40C>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.991+40C>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.991+40C>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.991+40C>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.436+40C>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.478+40C>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*620+40C>G
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13687
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3887
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4232
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48935
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum

17-78796147-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796147
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796147
    reference: chr 17
allele count: 2
allele frequency: 1.661709234118214e-5
allele num: 120358
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*620+46T>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.436+46T>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.478+46T>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.991+46T>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1790+46T>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.991+46T>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.991+46T>G
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13672
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2016
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-78796149-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796149
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796149
    reference: chr 17
allele count: 3
allele frequency: 2.497752023179139e-5
allele num: 120108
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1790+48C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.436+48C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.991+48C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.991+48C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.478+48C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.991+48C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*620+48C>T
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13672
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3897
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

17-78796150-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796150
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796150
    reference: chr 17
allele count: 2
allele frequency: 1.664585934248856e-5
allele num: 120150
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.991+49G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.478+49G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.991+49G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.991+49G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.436+49G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*620+49G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1790+49G>A
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13671
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

17-78796151-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796151
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796151
    reference: chr 17
allele count: 4
allele frequency: 3.33022512321833e-5
allele num: 120112
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*620+50C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.991+50C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.991+50C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.436+50C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.991+50C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.478+50C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1790+50C>T
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13670
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum

17-78796152-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796152
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796152
    reference: chr 17
allele count: 9
allele frequency: 7.485652499376195e-5
allele num: 120230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.436+51G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.991+51G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1790+51G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.991+51G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*620+51G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.478+51G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.991+51G>A
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3897
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13669
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48928
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

17-78796152-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796152
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796152
    reference: chr 17
allele count: 1
allele frequency: 8.317391665973551e-6
allele num: 120230
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.991+51G>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*620+51G>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.436+51G>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.991+51G>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1790+51G>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.478+51G>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.991+51G>T
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3897
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13669
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff

17-78796830-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796830
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796830
    reference: chr 17
allele count: 3
allele frequency: 2.502544253324213e-5
allele num: 119878
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.992-49C>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.992-49C>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.479-49C>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*621-49C>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.437-49C>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.992-49C>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1791-49C>G
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6478
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3820
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47102
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

17-78796834-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796834
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796834
    reference: chr 17
allele count: 1
allele frequency: 8.327920185212944e-6
allele num: 120078
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.992-45A>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*621-45A>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.992-45A>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.437-45A>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.992-45A>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1791-45A>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.479-45A>G
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6477
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1316
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum

17-78796835-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796835
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796835
    reference: chr 17
allele count: 4
allele frequency: 3.33377783704494e-5
allele num: 119984
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.437-44C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.992-44C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.992-44C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.479-44C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1791-44C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.992-44C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*621-44C>T
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6476
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3820
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3112
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

17-78796842-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796842
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796842
    reference: chr 17
allele count: 1
allele frequency: 8.326949338840222e-6
allele num: 120092
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.992-37C>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1791-37C>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.437-37C>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.992-37C>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.479-37C>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.992-37C>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*621-37C>G
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6477
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3113
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3838
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum

17-78796845-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796845
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796845
    reference: chr 17
allele count: 1
allele frequency: 8.31766839119658e-6
allele num: 120226
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.992-34T>C
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.479-34T>C
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.992-34T>C
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.437-34T>C
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*621-34T>C
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1791-34T>C
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.992-34T>C
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6256
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6477
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2427
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-78796881-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796881
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796881
    reference: chr 17
allele count: 1
allele frequency: 8.249463784853985e-6
allele num: 121220
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.994C>G
  hgvsp: ENSP00000307272.3:p.Leu332Val
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*623C>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.994C>G
  hgvsp: ENSP00000460136.1:p.Leu332Val
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.994C>G
  hgvsp: ENSP00000442479.2:p.Leu332Val
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.439C>G
  hgvsp: ENSP00000440947.1:p.Leu147Val
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1793C>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.481C>G
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6477
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4881
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6770
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu332Val
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-78796883-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796883
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796883
    reference: chr 17
allele count: 2
allele frequency: 1.649430121892886e-5
allele num: 121254
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.996C>T
  hgvsp: ENST00000570891.1:c.996C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1795C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*625C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.996C>T
  hgvsp: ENST00000544334.2:c.996C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.441C>T
  hgvsp: ENST00000537330.1:c.441C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.483C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.996C>T
  hgvsp: ENST00000306801.3:c.996C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6476
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu332Leu
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP

17-78796895-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796895
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796895
    reference: chr 17
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.1008C>G
  hgvsp: ENST00000570891.1:c.1008C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.495C>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.1008C>G
  hgvsp: ENST00000544334.2:c.1008C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1807C>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.453C>G
  hgvsp: ENST00000537330.1:c.453C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.1008C>G
  hgvsp: ENST00000306801.3:c.1008C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*637C>G
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4902
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6477
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu336Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

17-78796904-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796904
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796904
    reference: chr 17
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.1017G>A
  hgvsp: ENST00000570891.1:c.1017G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*646G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.504G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.462G>A
  hgvsp: ENST00000537330.1:c.462G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.1017G>A
  hgvsp: ENST00000544334.2:c.1017G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.1017G>A
  hgvsp: ENST00000306801.3:c.1017G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1816G>A
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6477
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1644
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6914
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln339Gln
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

17-78796946-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796946
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796946
    reference: chr 17
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1858G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.1059G>A
  hgvsp: ENST00000306801.3:c.1059G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.1059G>A
  hgvsp: ENST00000544334.2:c.1059G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*688G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.504G>A
  hgvsp: ENST00000537330.1:c.504G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.1059G>A
  hgvsp: ENST00000570891.1:c.1059G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.546G>A
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6478
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6933
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47100
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala353Ala
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

17-78796963-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796963
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796963
    reference: chr 17
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.521C>G
  hgvsp: ENSP00000440947.1:p.Ser174Trp
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*705C>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.1076C>G
  hgvsp: ENSP00000307272.3:p.Ser359Trp
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.1076C>G
  hgvsp: ENSP00000442479.2:p.Ser359Trp
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.563C>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.1076C>G
  hgvsp: ENSP00000460136.1:p.Ser359Trp
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1875C>G
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5128
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6477
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser359Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum

17-78796964-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796964
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796964
    reference: chr 17
allele count: 3
allele frequency: 2.471169686985173e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*706G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.564G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.1077G>A
  hgvsp: ENST00000306801.3:c.1077G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.522G>A
  hgvsp: ENST00000537330.1:c.522G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.1077G>A
  hgvsp: ENST00000570891.1:c.1077G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1876G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.1077G>A
  hgvsp: ENST00000544334.2:c.1077G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6476
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6938
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser359Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

17-78796977-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796977
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796977
    reference: chr 17
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.1090C>T
  hgvsp: ENSP00000442479.2:p.Pro364Ser
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1889C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*719C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.1090C>T
  hgvsp: ENSP00000307272.3:p.Pro364Ser
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.577C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.535C>T
  hgvsp: ENSP00000440947.1:p.Pro179Ser
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.1090C>T
  hgvsp: ENSP00000460136.1:p.Pro364Ser
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6476
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6911
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro364Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff

17-78796979-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796979
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796979
    reference: chr 17
allele count: 11
allele frequency: 9.063493894500931e-5
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1891C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.1092C>T
  hgvsp: ENST00000306801.3:c.1092C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.537C>T
  hgvsp: ENST00000537330.1:c.537C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*721C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.1092C>T
  hgvsp: ENST00000544334.2:c.1092C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.1092C>T
  hgvsp: ENST00000570891.1:c.1092C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.579C>T
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6475
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5369
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6341
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47104
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro364Pro
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

17-78796980-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796980
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796980
    reference: chr 17
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.1093G>T
  hgvsp: ENSP00000460136.1:p.Val365Phe
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.1093G>T
  hgvsp: ENSP00000442479.2:p.Val365Phe
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.538G>T
  hgvsp: ENSP00000440947.1:p.Val180Phe
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.1093G>T
  hgvsp: ENSP00000307272.3:p.Val365Phe
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1892G>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.580G>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*722G>T
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5369
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6476
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5128
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6911
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47103
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Val365Phe
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

17-78796991-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796991
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796991
    reference: chr 17
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.549G>A
  hgvsp: ENST00000537330.1:c.549G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*733G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1903G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.1104G>A
  hgvsp: ENST00000570891.1:c.1104G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.1104G>A
  hgvsp: ENST00000306801.3:c.1104G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.1104G>A
  hgvsp: ENST00000544334.2:c.1104G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.591G>A
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6475
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5369
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47104
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1628
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro368Pro
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

17-78796993-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78796993
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78796993
    reference: chr 17
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.1106G>A
  hgvsp: ENSP00000442479.2:p.Arg369His
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.551G>A
  hgvsp: ENSP00000440947.1:p.Arg184His
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1905G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.1106G>A
  hgvsp: ENSP00000307272.3:p.Arg369His
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*735G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.593G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.1106G>A
  hgvsp: ENSP00000460136.1:p.Arg369His
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6475
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5369
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1628
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg369His
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS

17-78797000-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78797000
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78797000
    reference: chr 17
allele count: 3
allele frequency: 2.47320692497939e-5
allele num: 121300
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.1113G>A
  hgvsp: ENST00000306801.3:c.1113G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*742G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.1113G>A
  hgvsp: ENST00000544334.2:c.1113G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.600G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.1113G>A
  hgvsp: ENST00000570891.1:c.1113G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.558G>A
  hgvsp: ENST00000537330.1:c.558G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1912G>A
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5369
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6476
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47104
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1622
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro371Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP

17-78797002-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78797002
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78797002
    reference: chr 17
allele count: 2
allele frequency: 1.64883180266781e-5
allele num: 121298
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.1115C>G
  hgvsp: ENSP00000460136.1:p.Pro372Arg
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.1115C>G
  hgvsp: ENSP00000307272.3:p.Pro372Arg
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.602C>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*744C>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.1115C>G
  hgvsp: ENSP00000442479.2:p.Pro372Arg
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.560C>G
  hgvsp: ENSP00000440947.1:p.Pro187Arg
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1914C>G
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5369
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4772
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6476
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro372Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

17-78797006-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78797006
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78797006
    reference: chr 17
allele count: 1
allele frequency: 8.245926512302922e-6
allele num: 121272
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.1119G>A
  hgvsp: ENST00000570891.1:c.1119G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.606G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*748G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.1119G>A
  hgvsp: ENST00000306801.3:c.1119G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.1119G>A
  hgvsp: ENST00000544334.2:c.1119G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1918G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.564G>A
  hgvsp: ENST00000537330.1:c.564G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6341
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6476
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1294
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr373Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

17-78797011-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78797011
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78797011
    reference: chr 17
allele count: 1
allele frequency: 8.249463784853985e-6
allele num: 121220
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*753T>C
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.1124T>C
  hgvsp: ENSP00000460136.1:p.Met375Thr
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.1124T>C
  hgvsp: ENSP00000307272.3:p.Met375Thr
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.611T>C
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.1124T>C
  hgvsp: ENSP00000442479.2:p.Met375Thr
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.569T>C
  hgvsp: ENSP00000440947.1:p.Met190Thr
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1923T>C
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5369
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6476
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Met375Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

17-78797016-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78797016
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78797016
    reference: chr 17
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*758G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.1129G>A
  hgvsp: ENSP00000460136.1:p.Ala377Thr
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.1129G>A
  hgvsp: ENSP00000442479.2:p.Ala377Thr
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.1129G>A
  hgvsp: ENSP00000307272.3:p.Ala377Thr
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.616G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.574G>A
  hgvsp: ENSP00000440947.1:p.Ala192Thr
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1928G>A
  variant of: http://identifiers.org/hgnc/30287
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6476
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2534
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6445
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47103
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala377Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-78797034-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78797034
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78797034
    reference: chr 17
allele count: 1
allele frequency: 8.271298593879239e-6
allele num: 120900
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.1136+11C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*765+11C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.623+11C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.1136+11C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.*7C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.581+11C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1935+11C>T
  variant of: http://identifiers.org/hgnc/30287
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5369
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6476
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5276
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47104
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

17-78797035-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78797035
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78797035
    reference: chr 17
allele count: 1
allele frequency: 8.270888127967181e-6
allele num: 120906
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.*8A>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.581+12A>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.623+12A>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.1136+12A>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.1136+12A>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1935+12A>G
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*765+12A>G
  variant of: http://identifiers.org/hgnc/30287
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5369
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6476
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47104
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

17-78797050-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78797050
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78797050
    reference: chr 17
allele count: 1
allele frequency: 8.298066550493736e-6
allele num: 120510
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.1136+27C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.*23C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.623+27C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.581+27C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*765+27C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.1136+27C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1935+27C>T
  variant of: http://identifiers.org/hgnc/30287
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6476
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3287
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

17-78797052-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78797052
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78797052
    reference: chr 17
allele count: 23
allele frequency: 1.908840420940809e-4
allele num: 120492
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.623+29G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1935+29G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.581+29G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*765+29G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.1136+29G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.*25G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.1136+29G>A
  variant of: http://identifiers.org/hgnc/30287
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 1
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

17-78797057-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78797057
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78797057
    reference: chr 17
allele count: 1
allele frequency: 8.314901967305805e-6
allele num: 120266
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.*30C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.581+34C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.623+34C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.1136+34C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1935+34C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.1136+34C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*765+34C>T
  variant of: http://identifiers.org/hgnc/30287
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3019
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6259
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4240
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6472
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

17-78797058-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78797058
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78797058
    reference: chr 17
allele count: 3
allele frequency: 2.494138773881379e-5
allele num: 120282
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.623+35C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.1136+35C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*765+35C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.1136+35C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1935+35C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.581+35C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.*31C>T
  variant of: http://identifiers.org/hgnc/30287
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4240
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6472
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47083
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

17-78797061-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78797061
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78797061
    reference: chr 17
allele count: 4
allele frequency: 3.330169672144796e-5
allele num: 120114
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.581+38C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.1136+38C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.1136+38C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.623+38C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.*34C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*765+38C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1935+38C>T
  variant of: http://identifiers.org/hgnc/30287
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6471
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2478
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

17-78797062-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78797062
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78797062
    reference: chr 17
allele count: 349
allele frequency: 2.909885272145144e-3
allele num: 119936
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.1136+39G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.1136+39G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.*35G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.581+39G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1935+39G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*765+39G>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.623+39G>A
  variant of: http://identifiers.org/hgnc/30287
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5291
  bin: 4.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 8.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 6.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 7.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 9.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 7.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 9.75e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 6314
  bin: 5.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 6463
  bin: 5.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 4188
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 8.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 5117
  bin: 6.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 8
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

17-78797064-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78797064
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78797064
    reference: chr 17
allele count: 1
allele frequency: 8.335139280177371e-6
allele num: 119974
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.1136+41C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.*37C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.623+41C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.581+41C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1935+41C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*765+41C>T
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.1136+41C>T
  variant of: http://identifiers.org/hgnc/30287
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6470
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2976
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6324
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

17-78797066-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78797066
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78797066
    reference: chr 17
allele count: 15929
allele frequency: 1.329543936965812e-1
allele num: 119808
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*765+43T>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.*39T>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1935+43T>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.581+43T>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.623+43T>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.1136+43T>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.1136+43T>A
  variant of: http://identifiers.org/hgnc/30287
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 3.25e1
  variant carriers: 279
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 2.25e1
  variant carriers: 416
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.5e0
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 4640
  bin: 4.75e1
  variant carriers: 419
genotype depth: GenotypeDepth
  all individuals: 3700
  bin: 4.25e1
  variant carriers: 383
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 1.75e1
  variant carriers: 455
genotype depth: GenotypeDepth
  all individuals: 5817
  bin: 5.75e1
  variant carriers: 811
genotype depth: GenotypeDepth
  all individuals: 5556
  bin: 5.25e1
  variant carriers: 569
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 9.25e1
  variant carriers: 803
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 3.75e1
  variant carriers: 312
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 7.25e1
  variant carriers: 1261
genotype depth: GenotypeDepth
  all individuals: 4880
  bin: 6.75e1
  variant carriers: 1146
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 7.75e1
  variant carriers: 1204
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 6.25e1
  variant carriers: 1008
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 2.75e1
  variant carriers: 289
genotype depth: GenotypeDepth
  all individuals: 4652
  bin: 9.75e1
  variant carriers: 2864
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 8.75e1
  variant carriers: 1007
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 1.25e1
  variant carriers: 278
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 8.25e1
  variant carriers: 1161
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 3.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 3.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 9.25e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 49586
  bin: 9.75e1
  variant carriers: 14451
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 1.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 6.25e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 7.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 8.25e1
  variant carriers: 18
num of homozygotes: 1272
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/17-78797067-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78797067
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78797067
    reference: chr 17
allele count: 1
allele frequency: 8.354498061756449e-6
allele num: 119696
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000577161
  gene symbol: RPTOR
  hgvsc: ENST00000577161.1:n.1935+44C>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000460136
  ensembl transcript: ENST00000570891
  gene symbol: RPTOR
  hgvsc: ENST00000570891.1:c.*40C>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000459701
  ensembl transcript: ENST00000574767
  gene symbol: RPTOR
  hgvsc: ENST00000574767.1:c.*765+44C>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000442479
  ensembl transcript: ENST00000544334
  gene symbol: RPTOR
  hgvsc: ENST00000544334.2:c.1136+44C>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000307272
  ensembl transcript: ENST00000306801
  gene symbol: RPTOR
  hgvsc: ENST00000306801.3:c.1136+44C>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl transcript: ENST00000575542
  gene symbol: RPTOR
  hgvsc: ENST00000575542.1:n.623+44C>A
  variant of: http://identifiers.org/hgnc/30287
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141564
  ensembl protein: ENSP00000440947
  ensembl transcript: ENST00000537330
  gene symbol: RPTOR
  hgvsc: ENST00000537330.1:c.581+44C>A
  variant of: http://identifiers.org/hgnc/30287
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3910
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6491
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 880
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1877
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 48
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1308
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1293
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3968
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.39e-1

QD
type: SiteQuality
SIO_000300: 1.209e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
type: SiteQuality
SIO_000300: 8.19e-1

FS
type: SiteQuality
SIO_000300: 3.038e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e0

DP
type: SiteQuality
SIO_000300: 4.506968e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.63e-1

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3986
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1295
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 884
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1308
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1365
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1876
bin: 6.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.624277456647399e-4
allele num: 8650
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 4.101e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.196e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.32e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e0

DP
type: SiteQuality
SIO_000300: 4.507287e6

QD
type: SiteQuality
SIO_000300: 9.44e0

GenotypeQuality
all individuals: 45
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1308
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1366
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.69e-1

FS
type: SiteQuality
SIO_000300: 2.82e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.053e0

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.42e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-1

DP
type: SiteQuality
SIO_000300: 4.506786e6

MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1366
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4041
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1295
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1308
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

DP
type: SiteQuality
SIO_000300: 4.506839e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.15e-1

QD
type: SiteQuality
SIO_000300: 1.168e1

VQSLOD
type: SiteQuality
SIO_000300: 5.3e-2

FS
type: SiteQuality
SIO_000300: 7.841e0

MQRankSum
type: SiteQuality
SIO_000300: -1.165e0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4058
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1300
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1364
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
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: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.04e0

QD
type: SiteQuality
SIO_000300: 1.153e1

VQSLOD
type: SiteQuality
SIO_000300: 8.6e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

FS
type: SiteQuality
SIO_000300: 1.117e0

DP
type: SiteQuality
SIO_000300: 4.507575e6

GenotypeQuality
all individuals: 886
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1308
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1364
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.087e1

FS
type: SiteQuality
SIO_000300: 1.126e0

DP
type: SiteQuality
SIO_000300: 4.507646e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: -5.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.31e-1

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

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1308
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 888
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49040
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1363
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.178e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.58e0

FS
type: SiteQuality
SIO_000300: 1.5768e1

DP
type: SiteQuality
SIO_000300: 4.507481e6

MQRankSum
type: SiteQuality
SIO_000300: -5.31e-1

QD
type: SiteQuality
SIO_000300: 1.149e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.95e-1

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1891
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4069
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1308
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1364
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49040
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.95e0

MQ
type: SiteQuality
SIO_000300: 5.937e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -7.477e-1

QD
type: SiteQuality
SIO_000300: 1.006e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.827e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.83e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.507424e6

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

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 888
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1297
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4085
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1308
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49040
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1897
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1365
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

QD
type: SiteQuality
SIO_000300: 9.65e0

MQRankSum
type: SiteQuality
SIO_000300: 6.19e-1

DP
type: SiteQuality
SIO_000300: 4.50726e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.132e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.422e0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49039
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1308
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4090
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 888
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1895
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 9.550000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.424e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.67e0

MQRankSum
type: SiteQuality
SIO_000300: 5.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

DP
type: SiteQuality
SIO_000300: 4.50748e6

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 49040
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4105
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1297
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1364
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1900
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.26e-1

FS
type: SiteQuality
SIO_000300: 1.203e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.584e0

MQRankSum
type: SiteQuality
SIO_000300: 6.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.99e-1

QD
type: SiteQuality
SIO_000300: 1.252e1

DP
type: SiteQuality
SIO_000300: 4.507296e6

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1871
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 878
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1298
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1362
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3977
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49040
bin: 9.75e1
variant carriers: 28

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

East Asian
type: Population
allele count: 28
allele frequency: 3.237742830712303e-3
allele num: 8648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.51e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 4.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 4.507044e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.84e0

FS
type: SiteQuality
SIO_000300: 7.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

QD
type: SiteQuality
SIO_000300: 1.309e1

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3968
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49037
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1869
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1307
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1296
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5001500150015e-5
allele num: 66660
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.732e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e0

DP
type: SiteQuality
SIO_000300: 4.501216e6

VQSLOD
type: SiteQuality
SIO_000300: -5.167e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.85e0

FS
type: SiteQuality
SIO_000300: 8.705e0

MQ
type: SiteQuality
SIO_000300: 5.99e1

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.416e1

GenotypeQuality
all individuals: 728
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 875
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3979
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1361
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1307
bin: 9.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.312673450508788e-4
allele num: 8648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500285054160291e-5
allele num: 66654
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.458e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.376e1

FS
type: SiteQuality
SIO_000300: 7.58e-1

DP
type: SiteQuality
SIO_000300: 4.501276e6

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.68e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

MQRankSum
type: SiteQuality
SIO_000300: 8.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.73e-1

GenotypeQuality
all individuals: 1304
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1288
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49036
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 864
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1810
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1353
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66606
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.633911368015414e-5
allele num: 10380
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 4.497834e6

QD
type: SiteQuality
SIO_000300: 1.474e1

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3662
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49036
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1288
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1804
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1352
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002462018855461e-5
allele num: 66612
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.497335e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e0

MQRankSum
type: SiteQuality
SIO_000300: -2.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.679e0

QD
type: SiteQuality
SIO_000300: 1.271e1

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1288
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1798
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3671
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501636784094663e-5
allele num: 66594
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.62e-1

FS
type: SiteQuality
SIO_000300: 1.144e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.139e1

MQ
type: SiteQuality
SIO_000300: 5.976e1

MQRankSum
type: SiteQuality
SIO_000300: 2.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 4.496654e6

QD
type: SiteQuality
SIO_000300: 1.275e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.74e-1

GenotypeQuality
all individuals: 66
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3528
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1287
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 852
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1773
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49035
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1302
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66560
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: 11562
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

MQRankSum
type: SiteQuality
SIO_000300: -1.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.49e0

VQSLOD
type: SiteQuality
SIO_000300: 9.27e-1

QD
type: SiteQuality
SIO_000300: 1.395e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.493e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.494942e6

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeQuality
all individuals: 105
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1342
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1286
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 67
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 76
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49035
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 724
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.817300702689605e-4
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503488092374308e-5
allele num: 66512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.389999999999999e-1

DP
type: SiteQuality
SIO_000300: 4.491843e6

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.19e-1

QD
type: SiteQuality
SIO_000300: 1.365e1

VQSLOD
type: SiteQuality
SIO_000300: 4.65e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

GenotypeQuality
all individuals: 841
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3438
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1740
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 49033
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1299
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66510
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.897430944562488e-4
allele num: 10354
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.491052e6

MQRankSum
type: SiteQuality
SIO_000300: 7.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.21e0

QD
type: SiteQuality
SIO_000300: 1.274e1

VQSLOD
type: SiteQuality
SIO_000300: 2.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1299
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1745
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 841
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1340
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1283
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3469
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.817300702689605e-4
allele num: 16508
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66502
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.640371229698376e-4
allele num: 8620
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.43e0

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 6.91e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.52e-1

DP
type: SiteQuality
SIO_000300: 4.49074e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.79e-1

QD
type: SiteQuality
SIO_000300: 1.481e1

MQRankSum
type: SiteQuality
SIO_000300: 5.46e-1

GenotypeQuality
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 838
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 49034
bin: 9.75e1
variant carriers: 21

GenotypeQuality
all individuals: 1299
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3536
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 8.75e1
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: 20
allele frequency: 1.21153380179307e-3
allele num: 16508
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503714174009804e-5
allele num: 66502
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.163e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 1.512e1

VQSLOD
type: SiteQuality
SIO_000300: 4.43e0

MQRankSum
type: SiteQuality
SIO_000300: 7.0e-3

MQ
type: SiteQuality
SIO_000300: 5.987e1

DP
type: SiteQuality
SIO_000300: 4.490032e6

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 39
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49033
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1283
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1297
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 837
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3416
bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504121292341014e-5
allele num: 66484
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.548e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.135e0

QD
type: SiteQuality
SIO_000300: 2.34e0

VQSLOD
type: SiteQuality
SIO_000300: -2.644e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.675e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.486899e6

GenotypeQuality
all individuals: 121
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1284
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49033
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1297
bin: 9.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66472
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.486421e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

MQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

QD
type: SiteQuality
SIO_000300: 1.434e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e0

VQSLOD
type: SiteQuality
SIO_000300: 9.14e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.22e-1

GenotypeQuality
all individuals: 165
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 827
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1297
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1718
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49032
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 89
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1329
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.323420074349442e-4
allele num: 8608
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505298651252408e-5
allele num: 66432
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.48385e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.98e0

QD
type: SiteQuality
SIO_000300: 1.292e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.54e-1

MQ
type: SiteQuality
SIO_000300: 6.052e1

MQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.6e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

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

GenotypeQuality
all individuals: 180
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1297
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1276
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49032
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.011503945070168e-5
allele num: 66412
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 4.482295e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.85e-1

QD
type: SiteQuality
SIO_000300: 1.48e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

FS
type: SiteQuality
SIO_000300: 2.158e0

MQRankSum
type: SiteQuality
SIO_000300: -2.41e-1

GenotypeQuality
all individuals: 66
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3194
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1268
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49031
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1316
bin: 7.75e1
variant carriers: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507068149621726e-5
allele num: 66354
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.387e1

MQRankSum
type: SiteQuality
SIO_000300: 3.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.98e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.19e-1

DP
type: SiteQuality
SIO_000300: 4.479644e6

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

GenotypeQuality
all individuals: 49104
bin: 9.75e1
variant carriers: 1394

GenotypeQuality
all individuals: 71
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1663
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3148
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 801
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1305
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 26
allele frequency: 2.519868191509983e-3
allele num: 10318
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 43
allele frequency: 6.50726392251816e-3
allele num: 6608
num of homozygotes: 0

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

Latino
type: Population
allele count: 480
allele frequency: 4.156563907170073e-2
allele num: 11548
num of homozygotes: 8

South Asian
type: Population
allele count: 57
allele frequency: 3.455383123181377e-3
allele num: 16496
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 799
allele frequency: 1.20440156768164e-2
allele num: 66340
num of homozygotes: 3

Other
type: Population
allele count: 6
allele frequency: 6.63716814159292e-3
allele num: 904
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.042e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

DP
type: SiteQuality
SIO_000300: 4.474295e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.41e0

QD
type: SiteQuality
SIO_000300: 1.435e1

MQ
type: SiteQuality
SIO_000300: 5.979e1

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1682
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1312
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1317
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 207
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3134
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66326
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

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

African
type: Population
allele count: 2
allele frequency: 1.939111886755866e-4
allele num: 10314
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.764e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.4e-2

MQ
type: SiteQuality
SIO_000300: 5.984e1

MQRankSum
type: SiteQuality
SIO_000300: 6.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

QD
type: SiteQuality
SIO_000300: 1.265e1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.308e0

DP
type: SiteQuality
SIO_000300: 4.422169e6

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

GenotypeQuality
all individuals: 154
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48932
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1310
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1681
bin: 6.75e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66310
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.699321047526673e-5
allele num: 10310
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.967e1

DP
type: SiteQuality
SIO_000300: 4.421179e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.37e0

QD
type: SiteQuality
SIO_000300: 1.438e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.55e-1

GenotypeQuality
all individuals: 43
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 314
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48931
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1310
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509160604871571e-5
allele num: 66262
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.43e1

DP
type: SiteQuality
SIO_000300: 4.417854e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.391e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -6.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.82e-1

GenotypeQuality
all individuals: 426
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 664
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1279
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48935
bin: 9.75e1
variant carriers: 44

GenotypeQuality
all individuals: 1304
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2350
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 24
allele frequency: 3.627130939426913e-4
allele num: 66168
num of homozygotes: 0

Latino
type: Population
allele count: 16
allele frequency: 1.38864780420066e-3
allele num: 11522
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.897875657766517e-4
allele num: 10262
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

QD
type: SiteQuality
SIO_000300: 1.421e1

DP
type: SiteQuality
SIO_000300: 4.411396e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.153e0

GenotypeQuality
all individuals: 188
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 664
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1279
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2350
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511304558094547e-5
allele num: 66168
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 4.411396e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.153e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.421e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.77e-1

GenotypeQuality
all individuals: 480
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48924
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1304
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1276
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 771
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1412
bin: 6.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.0274590536163e-5
allele num: 66062
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.437e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.93e-1

DP
type: SiteQuality
SIO_000300: 4.404221e6

VQSLOD
type: SiteQuality
SIO_000300: 4.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

FS
type: SiteQuality
SIO_000300: 6.053e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

GenotypeQuality
all individuals: 726
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48922
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1303
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1263
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10184
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.552628384120432e-5
allele num: 65896
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.43e-1

DP
type: SiteQuality
SIO_000300: 4.397847e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.32e0

MQRankSum
type: SiteQuality
SIO_000300: 7.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.07e-1

FS
type: SiteQuality
SIO_000300: 2.128e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.8e-1

QD
type: SiteQuality
SIO_000300: 1.384e1

GenotypeQuality
all individuals: 264
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 733
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48923
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 291
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 3.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.737015806843842e-4
allele num: 11514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65924
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.98e1

FS
type: SiteQuality
SIO_000300: 3.369e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.977e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.5e-2

DP
type: SiteQuality
SIO_000300: 4.396717e6

MQRankSum
type: SiteQuality
SIO_000300: 1.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

QD
type: SiteQuality
SIO_000300: 1.316e1

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

GenotypeQuality
all individuals: 1440
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48920
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 267
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.034717164360282e-5
allele num: 65904
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.815469179426777e-5
allele num: 10188
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.97e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e0

VQSLOD
type: SiteQuality
SIO_000300: 8.19e-1

DP
type: SiteQuality
SIO_000300: 4.396392e6

QD
type: SiteQuality
SIO_000300: 1.365e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-2

GenotypeQuality
all individuals: 268
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1303
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1273
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 4.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.073120369245719e-5
allele num: 16466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.060670343657191e-4
allele num: 65996
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.683570684265369e-5
allele num: 11516
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.49e0

MQRankSum
type: SiteQuality
SIO_000300: -2.57e-1

QD
type: SiteQuality
SIO_000300: 1.636e1

DP
type: SiteQuality
SIO_000300: 4.397126e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.519e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

GenotypeQuality
all individuals: 494
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1273
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1584
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1303
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48928
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1244
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65996
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.073120369245719e-5
allele num: 16466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 4.397126e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.519e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.43e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.57e-1

QD
type: SiteQuality
SIO_000300: 1.636e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.81e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.49e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

GenotypeQuality
all individuals: 2599
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 669
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 801
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 757
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 763
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66244
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.481086098862845e-4
allele num: 8618
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.6e0

MQRankSum
type: SiteQuality
SIO_000300: 3.13e-1

DP
type: SiteQuality
SIO_000300: 3.333313e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.258e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.21e-1

QD
type: SiteQuality
SIO_000300: 1.384e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 1298
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3030
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47105
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 90
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 765
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 799
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 679
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1117
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66288
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15738
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.650646593321752e-5
allele num: 10362
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 3.335134e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.96e-1

QD
type: SiteQuality
SIO_000300: 1.384e1

FS
type: SiteQuality
SIO_000300: 6.93e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

VQSLOD
type: SiteQuality
SIO_000300: 3.87e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.96e-1

GenotypeQuality
all individuals: 48
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 744
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 764
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1117
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47105
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 716
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 4
allele frequency: 2.553300140431508e-4
allele num: 15666
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66274
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.29e1

MQ
type: SiteQuality
SIO_000300: 5.973e1

VQSLOD
type: SiteQuality
SIO_000300: 1.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.297e0

FS
type: SiteQuality
SIO_000300: 8.866e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.0e-3

DP
type: SiteQuality
SIO_000300: 3.335761e6

MQRankSum
type: SiteQuality
SIO_000300: 6.37e-1

GenotypeQuality
all individuals: 711
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47106
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 664
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 765
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1023
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1358
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1121
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1297
bin: 9.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.353240152477763e-5
allele num: 15740
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66304
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.272e0

FS
type: SiteQuality
SIO_000300: 5.356e0

QD
type: SiteQuality
SIO_000300: 1.172e1

DP
type: SiteQuality
SIO_000300: 3.341337e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.28e-1

GenotypeQuality
all individuals: 47106
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 22
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 675
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1125
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4243
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 766
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1025
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66338
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.397e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.74e-1

DP
type: SiteQuality
SIO_000300: 3.344772e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.044e0

GenotypeQuality
all individuals: 1622
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1302
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1132
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47108
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5008254539997e-5
allele num: 66630
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.52e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.681e1

FS
type: SiteQuality
SIO_000300: 2.113e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.84e-1

DP
type: SiteQuality
SIO_000300: 3.375422e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.86e-1

GenotypeQuality
all individuals: 93
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47107
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1302
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6792
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 770
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.214181641573579e-4
allele num: 16472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

MQRankSum
type: SiteQuality
SIO_000300: 7.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.39e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.76e0

DP
type: SiteQuality
SIO_000300: 3.375778e6

GenotypeQuality
all individuals: 37
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1061
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1133
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6888
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47106
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499430216517723e-5
allele num: 66692
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.0e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.35e-1

MQ
type: SiteQuality
SIO_000300: 5.937e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 8.179e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.91e-1

QD
type: SiteQuality
SIO_000300: 1.408e1

DP
type: SiteQuality
SIO_000300: 3.37724e6

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

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1062
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1133
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47106
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1302
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.75e0

DP
type: SiteQuality
SIO_000300: 3.377631e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.272e1

VQSLOD
type: SiteQuality
SIO_000300: 6.870000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.17e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.54e0

GenotypeQuality
all individuals: 726
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1060
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1647
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1301
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1134
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.378376e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-1

FS
type: SiteQuality
SIO_000300: 1.092e0

MQRankSum
type: SiteQuality
SIO_000300: -3.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.983e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

VQSLOD
type: SiteQuality
SIO_000300: 2.35e0

QD
type: SiteQuality
SIO_000300: 1.357e1

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

GenotypeQuality
all individuals: 6938
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 725
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1301
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1642
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47103
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.78e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.226e-1

DP
type: SiteQuality
SIO_000300: 3.377738e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.4e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.74e-1

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

GenotypeQuality
all individuals: 1133
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1300
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47102
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1642
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1060
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495594317568783e-5
allele num: 66732
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

FS
type: SiteQuality
SIO_000300: 1.733e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.967e1

MQRankSum
type: SiteQuality
SIO_000300: -1.17e-1

QD
type: SiteQuality
SIO_000300: 1.237e1

DP
type: SiteQuality
SIO_000300: 3.377886e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.05e-1

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

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

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

GenotypeQuality
all individuals: 770
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1300
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47102
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1640
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1133
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.157e1

MQ
type: SiteQuality
SIO_000300: 5.978e1

DP
type: SiteQuality
SIO_000300: 3.377336e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.028e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.135e0

VQSLOD
type: SiteQuality
SIO_000300: 1.59e-1

FS
type: SiteQuality
SIO_000300: 5.574e0

MQRankSum
type: SiteQuality
SIO_000300: -5.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 1058
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1640
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6909
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 770
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1299
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997781641585227e-5
allele num: 66716
num of homozygotes: 0

East Asian
type: Population
allele count: 9
allele frequency: 1.039981511439797e-3
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.72e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e0

DP
type: SiteQuality
SIO_000300: 3.378283e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

QD
type: SiteQuality
SIO_000300: 1.288e1

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.71e-1

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1058
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1639
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1133
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1299
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.377404e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.69e-1

QD
type: SiteQuality
SIO_000300: 1.333e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e0

FS
type: SiteQuality
SIO_000300: 3.041e0

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.591e0

VQSLOD
type: SiteQuality
SIO_000300: 6.5e-1

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

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1131
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6867
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1297
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

FS
type: SiteQuality
SIO_000300: 2.661e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.24e-1

QD
type: SiteQuality
SIO_000300: 1.16e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.042e0

DP
type: SiteQuality
SIO_000300: 3.376736e6

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 6868
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1297
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1130
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47103
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.59e0

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

DP
type: SiteQuality
SIO_000300: 3.376837e6

QD
type: SiteQuality
SIO_000300: 1.205e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.389999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.024e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1055
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6809
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1130
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999670036296008e-5
allele num: 66674
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.228e0

QD
type: SiteQuality
SIO_000300: 1.148e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.376509e6

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6811
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1619
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47104
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 767
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999580058791769e-5
allele num: 66676
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.259e0

DP
type: SiteQuality
SIO_000300: 3.376306e6

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: 4.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e0

QD
type: SiteQuality
SIO_000300: 1.085e1

GenotypeQuality
all individuals: 47105
bin: 9.75e1
variant carriers: 1

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

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

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

GenotypeQuality
all individuals: 6713
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1052
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1598
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.25e1
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: 1
allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66662
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.963e0

DP
type: SiteQuality
SIO_000300: 3.375429e6

FS
type: SiteQuality
SIO_000300: 1.463e0

MQ
type: SiteQuality
SIO_000300: 5.927e1

VQSLOD
type: SiteQuality
SIO_000300: 1.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.091e1

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 47104
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6592
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 768
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1576
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.893e1

DP
type: SiteQuality
SIO_000300: 3.374165e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.66e-1

FS
type: SiteQuality
SIO_000300: 1.047e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.02e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.29e-1

QD
type: SiteQuality
SIO_000300: 1.081e1

GenotypeQuality
all individuals: 67
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1126
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 703
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1558
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500960614793468e-5
allele num: 66624
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.205e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.47e-1

FS
type: SiteQuality
SIO_000300: 1.186e0

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

DP
type: SiteQuality
SIO_000300: 3.372899e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.971e0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 307
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1292
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 57
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503036132988637e-5
allele num: 66532
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 9.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.63e-1

QD
type: SiteQuality
SIO_000300: 1.199e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.792e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 3.361914e6

FS
type: SiteQuality
SIO_000300: 7.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.9e-1

MQ
type: SiteQuality
SIO_000300: 5.923e1

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

GenotypeQuality
all individuals: 1292
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1121
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1457
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5368
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1024
bin: 7.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66534
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-1

DP
type: SiteQuality
SIO_000300: 3.361636e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.42e-1

FS
type: SiteQuality
SIO_000300: 4.348e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.968e1

QD
type: SiteQuality
SIO_000300: 1.164e1

GenotypeQuality
all individuals: 1230
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1095
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1354
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 888
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 615
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1287
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47094
bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66390
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10274
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.206554121151936e-5
allele num: 16112
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.339142e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.811e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.973e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.26e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.397e0

QD
type: SiteQuality
SIO_000300: 1.735e1

GenotypeQuality
all individuals: 754
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3420
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1396
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 47094
bin: 9.75e1
variant carriers: 22

GenotypeQuality
all individuals: 106
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 978
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1286
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 19
allele frequency: 2.196024040684235e-3
allele num: 8652
num of homozygotes: 1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506296318611797e-5
allele num: 66388
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.863585538576221e-4
allele num: 16098
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
SIO_000300: 3.339777e6

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.091e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.56e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.85e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.86e-1

QD
type: SiteQuality
SIO_000300: 1.279e1

GenotypeQuality
all individuals: 1059
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1117
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2660
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 922
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1031
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47082
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 704
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10222
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.250781347668459e-5
allele num: 15998
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66324
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.462e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.34e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.328417e6

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

QD
type: SiteQuality
SIO_000300: 2.832e1

GenotypeQuality
all individuals: 837
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1058
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1114
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2755
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 923
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.875e-4
allele num: 16000
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66322
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

MQ
type: SiteQuality
SIO_000300: 5.948e1

FS
type: SiteQuality
SIO_000300: 2.392e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.662e0

VQSLOD
type: SiteQuality
SIO_000300: 6.4e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.48e-1

DP
type: SiteQuality
SIO_000300: 3.328226e6

QD
type: SiteQuality
SIO_000300: 1.155e1

GenotypeQuality
all individuals: 74
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1055
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47079
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 745
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1272
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 917
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1018
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15888
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.034274680183442e-5
allele num: 66288
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.472e0

FS
type: SiteQuality
SIO_000300: 9.311999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.84e-1

QD
type: SiteQuality
SIO_000300: 2.397e1

MQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.69e-1

DP
type: SiteQuality
SIO_000300: 3.325358e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

GenotypeQuality
all individuals: 175
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2015
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 168
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 47155
bin: 9.75e1
variant carriers: 338

GenotypeQuality
all individuals: 412
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 744
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1165
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 721
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1046
bin: 8.25e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15764
num of homozygotes: 0

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

African
type: Population
allele count: 336
allele frequency: 3.294117647058824e-2
allele num: 10200
num of homozygotes: 8

Latino
type: Population
allele count: 8
allele frequency: 6.919218128351496e-4
allele num: 11562
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.037371328523561e-5
allele num: 66254
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.13e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

DP
type: SiteQuality
SIO_000300: 3.324268e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.118e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.753e0

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.84e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.24e-1

GenotypeQuality
all individuals: 972
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1050
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47074
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 548
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2224
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1433
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10206
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15786
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509206157561123e-5
allele num: 66260
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.319773e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

QD
type: SiteQuality
SIO_000300: 1.704e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.944e0

MQRankSum
type: SiteQuality
SIO_000300: -1.48e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.03e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 100
bin: 1.25e1
variant carriers: 4

GenotypeQuality
all individuals: 1188
bin: 2.25e1
variant carriers: 10

GenotypeQuality
all individuals: 331
bin: 4.25e1
variant carriers: 11

GenotypeQuality
all individuals: 54
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 436
bin: 4.75e1
variant carriers: 18

GenotypeQuality
all individuals: 761
bin: 6.75e1
variant carriers: 33

GenotypeQuality
all individuals: 120
bin: 5.75e1
variant carriers: 14

GenotypeQuality
all individuals: 621
bin: 8.75e1
variant carriers: 16

GenotypeQuality
all individuals: 211
bin: 5.25e1
variant carriers: 15

GenotypeQuality
all individuals: 457
bin: 7.25e1
variant carriers: 28

European (Non-Finnish)
type: Population
allele count: 10089
allele frequency: 1.523649873142443e-1
allele num: 66216
num of homozygotes: 817

African
type: Population
allele count: 389
allele frequency: 3.818217510797016e-2
allele num: 10188
num of homozygotes: 6

East Asian
type: Population
allele count: 1947
allele frequency: 2.259224878161986e-1
allele num: 8618
num of homozygotes: 223

South Asian
type: Population
allele count: 1828
allele frequency: 1.162554057491732e-1
allele num: 15724
num of homozygotes: 128

European (Finnish)
type: Population
allele count: 905
allele frequency: 1.369137670196672e-1
allele num: 6610
num of homozygotes: 56

Latino
type: Population
allele count: 653
allele frequency: 5.646835005188516e-2
allele num: 11564
num of homozygotes: 35

Other
type: Population
allele count: 118
allele frequency: 1.328828828828829e-1
allele num: 888
num of homozygotes: 7

VQSLOD
type: SiteQuality
SIO_000300: 4.81e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.044e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.99e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.86e-2

FS
type: SiteQuality
SIO_000300: 8.080000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.429e1

DP
type: SiteQuality
SIO_000300: 3.516112e6

MQ
type: SiteQuality
SIO_000300: 5.97e1