http://identifiers.org/exac.variant/8-124114556-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124114556
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124114556
    reference: chr 8
allele count: 1
allele frequency: 7.039279177812192e-5
allele num: 14206
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1032+1309A>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.717+1309A>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000432525
  ensembl transcript: ENST00000521914
  gene symbol: TBC1D31
  hgvsc: ENST00000521914.1:c.*46A>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.717+1309A>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.37-2972A>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.-70+1309A>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1032+1309A>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.717+1309A>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*673+1309A>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1032+1309A>C
  variant of: http://identifiers.org/hgnc/30888
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1939
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum

8-124114560-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124114560
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124114560
    reference: chr 8
allele count: 7844
allele frequency: 5.527836504580691e-1
allele num: 14190
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000432525
  ensembl transcript: ENST00000521914
  gene symbol: TBC1D31
  hgvsc: ENST00000521914.1:c.*50T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1032+1313T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*673+1313T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.717+1313T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1032+1313T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.717+1313T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.717+1313T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1032+1313T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.37-2968T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.-70+1313T>C
  variant of: http://identifiers.org/hgnc/30888
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 4.75e1
  variant carriers: 660
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 2.75e1
  variant carriers: 556
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 2.5e0
  variant carriers: 225
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 3.25e1
  variant carriers: 846
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.25e1
  variant carriers: 844
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 173
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.25e1
  variant carriers: 448
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 3.75e1
  variant carriers: 969
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 2.25e1
  variant carriers: 311
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 124
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.75e1
  variant carriers: 297
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 12
num of homozygotes: 2236
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ

8-124117489-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124117489
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124117489
    reference: chr 8
allele count: 1
allele frequency: 7.941550190597205e-5
allele num: 12592
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.718-39T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.718-39T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1033-39T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*674-39T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.718-39T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.37-39T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.-69-39T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1033-39T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1033-39T>C
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25355
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3179
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9053
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

8-124117499-A-AAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124117499
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124117501
    reference: chr 8
allele count: 1
allele frequency: 8.069722401549386e-5
allele num: 12392
alternate allele: AAT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1033-18_1033-17dupAT
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.37-18_37-17dupAT
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1033-18_1033-17dupAT
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.-69-18_-69-17dupAT
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.718-18_718-17dupAT
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1033-18_1033-17dupAT
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.718-18_718-17dupAT
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.718-18_718-17dupAT
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*674-18_*674-17dupAT
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27461
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4081
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3526
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6311
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

8-124117499-AAT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124117499
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124117497
    reference: chr 8
allele count: 5
allele frequency: 4.034861200774693e-4
allele num: 12392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.718-18_718-17delAT
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.37-18_37-17delAT
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*674-18_*674-17delAT
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.-69-18_-69-17delAT
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1033-18_1033-17delAT
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1033-18_1033-17delAT
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.718-18_718-17delAT
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1033-18_1033-17delAT
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.718-18_718-17delAT
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27461
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4081
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6311
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: AAT
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

8-124117500-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124117500
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124117500
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 12488
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1033-28A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.718-28A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.718-28A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.718-28A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1033-28A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.37-28A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*674-28A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.-69-28A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1033-28A>G
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4077
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27554
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21099
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

8-124117502-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124117502
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124117502
    reference: chr 8
allele count: 10
allele frequency: 7.582650894752805e-4
allele num: 13188
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1033-26A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.718-26A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*674-26A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1033-26A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.-69-26A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.718-26A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1033-26A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.37-26A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.718-26A>G
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28247
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2200
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3764
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD

8-124117535-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124117535
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124117535
    reference: chr 8
allele count: 1
allele frequency: 4.088976120379457e-5
allele num: 24456
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.725C>T
  hgvsp: ENSP00000430628.1:p.Pro242Leu
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.725C>T
  hgvsp: ENSP00000429334.1:p.Pro242Leu
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*681C>T
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1040C>T
  hgvsp: ENSP00000312701.5:p.Pro347Leu
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.-62C>T
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.725C>T
  hgvsp: ENSP00000367320.2:p.Pro242Leu
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1040C>T
  hgvsp: ENSP00000308358.3:p.Pro347Leu
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.44C>T
  hgvsp: ENSP00000430927.1:p.Pro15Leu
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1040C>T
  hgvsp: ENSP00000287380.1:p.Pro347Leu
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18492
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28914
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro347Leu
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: C
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

8-124117536-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124117536
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124117536
    reference: chr 8
allele count: 47
allele frequency: 1.853312302839117e-3
allele num: 25360
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1041G>A
  hgvsp: ENST00000287380.1:c.1041G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.45G>A
  hgvsp: ENST00000519418.1:c.45G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1041G>A
  hgvsp: ENST00000327098.5:c.1041G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.726G>A
  hgvsp: ENST00000378080.2:c.726G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.726G>A
  hgvsp: ENST00000522420.1:c.726G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1041G>A
  hgvsp: ENST00000309336.3:c.1041G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.-61G>A
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*682G>A
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.726G>A
  hgvsp: ENST00000521676.1:c.726G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 1.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7830
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16917
  bin: 2.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30153
  bin: 7.5e0
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 3
hgvs: p.Pro347Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

8-124117538-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124117538
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124117537
    reference: chr 8
allele count: 1
allele frequency: 3.7180249851279e-5
allele num: 26896
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.731delT
  hgvsp: ENSP00000367320.2:p.Leu244Ter
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1046delT
  hgvsp: ENSP00000287380.1:p.Leu349Ter
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.-56delT
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*687delT
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1046delT
  hgvsp: ENSP00000308358.3:p.Leu349Ter
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.50delT
  hgvsp: ENSP00000430927.1:p.Leu17Ter
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1046delT
  hgvsp: ENSP00000312701.5:p.Leu349Ter
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.731delT
  hgvsp: ENSP00000430628.1:p.Leu244Ter
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.731delT
  hgvsp: ENSP00000429334.1:p.Leu244Ter
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14747
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31849
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30352
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9291
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu349Ter
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: CT
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

8-124117548-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124117548
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124117548
    reference: chr 8
allele count: 1
allele frequency: 3.077680659854734e-5
allele num: 32492
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1053A>G
  hgvsp: ENST00000287380.1:c.1053A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*694A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1053A>G
  hgvsp: ENST00000309336.3:c.1053A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.738A>G
  hgvsp: ENST00000378080.2:c.738A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1053A>G
  hgvsp: ENST00000327098.5:c.1053A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.-49A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.57A>G
  hgvsp: ENST00000519418.1:c.57A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.738A>G
  hgvsp: ENST00000521676.1:c.738A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.738A>G
  hgvsp: ENST00000522420.1:c.738A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8841
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33795
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys351Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

8-124117552-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124117552
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124117552
    reference: chr 8
allele count: 1
allele frequency: 2.850302132025995e-5
allele num: 35084
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1057A>G
  hgvsp: ENSP00000312701.5:p.Ile353Val
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.61A>G
  hgvsp: ENSP00000430927.1:p.Ile21Val
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.742A>G
  hgvsp: ENSP00000430628.1:p.Ile248Val
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.742A>G
  hgvsp: ENSP00000367320.2:p.Ile248Val
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1057A>G
  hgvsp: ENSP00000308358.3:p.Ile353Val
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.-45A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.742A>G
  hgvsp: ENSP00000429334.1:p.Ile248Val
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1057A>G
  hgvsp: ENSP00000287380.1:p.Ile353Val
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*698A>G
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7033
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35687
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1411
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34418
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile353Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

8-124117574-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124117574
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124117574
    reference: chr 8
allele count: 2
allele frequency: 3.414251084024719e-5
allele num: 58578
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.83A>G
  hgvsp: ENSP00000430927.1:p.Lys28Arg
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*720A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1079A>G
  hgvsp: ENSP00000308358.3:p.Lys360Arg
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.764A>G
  hgvsp: ENSP00000429334.1:p.Lys255Arg
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1079A>G
  hgvsp: ENSP00000287380.1:p.Lys360Arg
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.764A>G
  hgvsp: ENSP00000430628.1:p.Lys255Arg
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.764A>G
  hgvsp: ENSP00000367320.2:p.Lys255Arg
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1079A>G
  hgvsp: ENSP00000312701.5:p.Lys360Arg
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.-23A>G
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4081
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29875
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys360Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

8-124117585-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124117585
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124117585
    reference: chr 8
allele count: 1
allele frequency: 1.371629221188928e-5
allele num: 72906
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1090A>G
  hgvsp: ENSP00000287380.1:p.Ser364Gly
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.775A>G
  hgvsp: ENSP00000429334.1:p.Ser259Gly
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*731A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1090A>G
  hgvsp: ENSP00000308358.3:p.Ser364Gly
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.775A>G
  hgvsp: ENSP00000430628.1:p.Ser259Gly
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.94A>G
  hgvsp: ENSP00000430927.1:p.Ser32Gly
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1090A>G
  hgvsp: ENSP00000312701.5:p.Ser364Gly
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.775A>G
  hgvsp: ENSP00000367320.2:p.Ser259Gly
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.-12A>G
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23475
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3834
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser364Gly
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

8-124117590-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124117590
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124117590
    reference: chr 8
allele count: 1
allele frequency: 1.270906410451934e-5
allele num: 78684
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.780T>A
  hgvsp: ENSP00000429334.1:p.Asp260Glu
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.-7T>A
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1095T>A
  hgvsp: ENSP00000287380.1:p.Asp365Glu
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.99T>A
  hgvsp: ENSP00000430927.1:p.Asp33Glu
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.780T>A
  hgvsp: ENSP00000430628.1:p.Asp260Glu
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.780T>A
  hgvsp: ENSP00000367320.2:p.Asp260Glu
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1095T>A
  hgvsp: ENSP00000308358.3:p.Asp365Glu
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1095T>A
  hgvsp: ENSP00000312701.5:p.Asp365Glu
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*736T>A
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20797
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28366
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4547
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3571
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28968
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp365Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

8-124117591-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124117591
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124117591
    reference: chr 8
allele count: 2
allele frequency: 2.509473261562398e-5
allele num: 79698
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.781C>T
  hgvsp: ENSP00000429334.1:p.Leu261Phe
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*737C>T
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1096C>T
  hgvsp: ENSP00000308358.3:p.Leu366Phe
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.781C>T
  hgvsp: ENSP00000367320.2:p.Leu261Phe
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.100C>T
  hgvsp: ENSP00000430927.1:p.Leu34Phe
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1096C>T
  hgvsp: ENSP00000287380.1:p.Leu366Phe
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1096C>T
  hgvsp: ENSP00000312701.5:p.Leu366Phe
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.-6C>T
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.781C>T
  hgvsp: ENSP00000430628.1:p.Leu261Phe
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28762
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu366Phe
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

8-124117598-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124117598
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124117598
    reference: chr 8
allele count: 7
allele frequency: 8.039139123044767e-5
allele num: 87074
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.788T>A
  hgvsp: ENSP00000367320.2:p.Met263Lys
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.2T>A
  hgvsp: ENSP00000429494.1:p.Met1?
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*744T>A
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.107T>A
  hgvsp: ENSP00000430927.1:p.Met36Lys
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1103T>A
  hgvsp: ENSP00000287380.1:p.Met368Lys
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1103T>A
  hgvsp: ENSP00000308358.3:p.Met368Lys
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.788T>A
  hgvsp: ENSP00000429334.1:p.Met263Lys
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1103T>A
  hgvsp: ENSP00000312701.5:p.Met368Lys
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.788T>A
  hgvsp: ENSP00000430628.1:p.Met263Lys
  variant of: http://identifiers.org/hgnc/30888
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31963
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5216
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16820
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1451
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD

8-124117598-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124117598
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124117598
    reference: chr 8
allele count: 2
allele frequency: 2.296896892298505e-5
allele num: 87074
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.788T>C
  hgvsp: ENSP00000367320.2:p.Met263Thr
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.788T>C
  hgvsp: ENSP00000429334.1:p.Met263Thr
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.107T>C
  hgvsp: ENSP00000430927.1:p.Met36Thr
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1103T>C
  hgvsp: ENSP00000308358.3:p.Met368Thr
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*744T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.2T>C
  hgvsp: ENSP00000429494.1:p.Met1?
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1103T>C
  hgvsp: ENSP00000287380.1:p.Met368Thr
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1103T>C
  hgvsp: ENSP00000312701.5:p.Met368Thr
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.788T>C
  hgvsp: ENSP00000430628.1:p.Met263Thr
  variant of: http://identifiers.org/hgnc/30888
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31963
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5216
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16820
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

8-124117598-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124117598
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124117598
    reference: chr 8
allele count: 7
allele frequency: 8.039139123044767e-5
allele num: 87074
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.788T>G
  hgvsp: ENSP00000430628.1:p.Met263Arg
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1103T>G
  hgvsp: ENSP00000287380.1:p.Met368Arg
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.788T>G
  hgvsp: ENSP00000367320.2:p.Met263Arg
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.107T>G
  hgvsp: ENSP00000430927.1:p.Met36Arg
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1103T>G
  hgvsp: ENSP00000308358.3:p.Met368Arg
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.2T>G
  hgvsp: ENSP00000429494.1:p.Met1?
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.788T>G
  hgvsp: ENSP00000429334.1:p.Met263Arg
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1103T>G
  hgvsp: ENSP00000312701.5:p.Met368Arg
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*744T>G
  variant of: http://identifiers.org/hgnc/30888
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16820
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5216
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31963
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

8-124117602-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124117602
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124117602
    reference: chr 8
allele count: 2
allele frequency: 2.209310032476857e-5
allele num: 90526
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1107A>T
  hgvsp: ENSP00000312701.5:p.Lys369Asn
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.792A>T
  hgvsp: ENSP00000429334.1:p.Lys264Asn
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.792A>T
  hgvsp: ENSP00000367320.2:p.Lys264Asn
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1107A>T
  hgvsp: ENSP00000287380.1:p.Lys369Asn
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.6A>T
  hgvsp: ENSP00000429494.1:p.Lys2Asn
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.111A>T
  hgvsp: ENSP00000430927.1:p.Lys37Asn
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1107A>T
  hgvsp: ENSP00000308358.3:p.Lys369Asn
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*748A>T
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.792A>T
  hgvsp: ENSP00000430628.1:p.Lys264Asn
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15096
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33467
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1369
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys369Asn
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD

8-124117613-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124117613
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124117613
    reference: chr 8
allele count: 1
allele frequency: 9.859988168014199e-6
allele num: 101420
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.803G>A
  hgvsp: ENSP00000430628.1:p.Gly268Glu
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1118G>A
  hgvsp: ENSP00000287380.1:p.Gly373Glu
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.803G>A
  hgvsp: ENSP00000429334.1:p.Gly268Glu
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*759G>A
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1118G>A
  hgvsp: ENSP00000308358.3:p.Gly373Glu
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1118G>A
  hgvsp: ENSP00000312701.5:p.Gly373Glu
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.803G>A
  hgvsp: ENSP00000367320.2:p.Gly268Glu
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.122G>A
  hgvsp: ENSP00000430927.1:p.Gly41Glu
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.17G>A
  hgvsp: ENSP00000429494.1:p.Gly6Glu
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38374
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9736
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2371
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly373Glu
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

8-124117620-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124117620
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124117620
    reference: chr 8
allele count: 199
allele frequency: 1.864517942471657e-3
allele num: 106730
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1125A>G
  hgvsp: ENST00000287380.1:c.1125A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.810A>G
  hgvsp: ENST00000522420.1:c.810A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1125A>G
  hgvsp: ENST00000309336.3:c.1125A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*766A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.24A>G
  hgvsp: ENST00000518805.1:c.24A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.810A>G
  hgvsp: ENST00000521676.1:c.810A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.810A>G
  hgvsp: ENST00000378080.2:c.810A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.129A>G
  hgvsp: ENST00000519418.1:c.129A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1125A>G
  hgvsp: ENST00000327098.5:c.1125A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 3.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 1.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7841
  bin: 2.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 3.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 40688
  bin: 2.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 7184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 7643
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val375Val
num of homozygotes: 1
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

8-124117626-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124117626
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124117626
    reference: chr 8
allele count: 1
allele frequency: 9.068814161860195e-6
allele num: 110268
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.30G>C
  hgvsp: ENSP00000429494.1:p.Gln10His
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1131G>C
  hgvsp: ENSP00000308358.3:p.Gln377His
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.816G>C
  hgvsp: ENSP00000430628.1:p.Gln272His
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1131G>C
  hgvsp: ENSP00000287380.1:p.Gln377His
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*772G>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.816G>C
  hgvsp: ENSP00000429334.1:p.Gln272His
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.816G>C
  hgvsp: ENSP00000367320.2:p.Gln272His
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.135G>C
  hgvsp: ENSP00000430927.1:p.Gln45His
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1131G>C
  hgvsp: ENSP00000312701.5:p.Gln377His
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42259
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8668
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5913
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln377His
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/8-124117633-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124117633
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124117633
    reference: chr 8
allele count: 1
allele frequency: 8.860221151119932e-6
allele num: 112864
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1138A>C
  hgvsp: ENSP00000312701.5:p.Lys380Gln
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.823A>C
  hgvsp: ENSP00000429334.1:p.Lys275Gln
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.37A>C
  hgvsp: ENSP00000429494.1:p.Lys13Gln
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*779A>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.823A>C
  hgvsp: ENSP00000430628.1:p.Lys275Gln
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.823A>C
  hgvsp: ENSP00000367320.2:p.Lys275Gln
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1138A>C
  hgvsp: ENSP00000308358.3:p.Lys380Gln
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.142A>C
  hgvsp: ENSP00000430927.1:p.Lys48Gln
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1138A>C
  hgvsp: ENSP00000287380.1:p.Lys380Gln
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43064
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys380Gln
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

8-124117636-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124117636
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124117636
    reference: chr 8
allele count: 3
allele frequency: 2.638290387828687e-5
allele num: 113710
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.826T>C
  hgvsp: ENSP00000367320.2:p.Ser276Pro
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1141T>C
  hgvsp: ENSP00000308358.3:p.Ser381Pro
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.826T>C
  hgvsp: ENSP00000429334.1:p.Ser276Pro
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*782T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.145T>C
  hgvsp: ENSP00000430927.1:p.Ser49Pro
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1141T>C
  hgvsp: ENSP00000287380.1:p.Ser381Pro
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.826T>C
  hgvsp: ENSP00000430628.1:p.Ser276Pro
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1141T>C
  hgvsp: ENSP00000312701.5:p.Ser381Pro
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.40T>C
  hgvsp: ENSP00000429494.1:p.Ser14Pro
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3785
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9600
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser381Pro
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

8-124117637-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124117637
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124117637
    reference: chr 8
allele count: 1
allele frequency: 8.777627582816916e-6
allele num: 113926
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.827C>T
  hgvsp: ENSP00000429334.1:p.Ser276Phe
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.146C>T
  hgvsp: ENSP00000430927.1:p.Ser49Phe
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1142C>T
  hgvsp: ENSP00000308358.3:p.Ser381Phe
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.827C>T
  hgvsp: ENSP00000367320.2:p.Ser276Phe
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.827C>T
  hgvsp: ENSP00000430628.1:p.Ser276Phe
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.41C>T
  hgvsp: ENSP00000429494.1:p.Ser14Phe
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1142C>T
  hgvsp: ENSP00000287380.1:p.Ser381Phe
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1142C>T
  hgvsp: ENSP00000312701.5:p.Ser381Phe
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*783C>T
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3666
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9661
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2911
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49218
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser381Phe
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

8-124117644-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124117644
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124117644
    reference: chr 8
allele count: 1
allele frequency: 8.666562667914651e-6
allele num: 115386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.48A>G
  hgvsp: ENST00000518805.1:c.48A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1149A>G
  hgvsp: ENST00000327098.5:c.1149A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.153A>G
  hgvsp: ENST00000519418.1:c.153A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.834A>G
  hgvsp: ENST00000521676.1:c.834A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1149A>G
  hgvsp: ENST00000287380.1:c.1149A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*790A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.834A>G
  hgvsp: ENST00000378080.2:c.834A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.834A>G
  hgvsp: ENST00000522420.1:c.834A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1149A>G
  hgvsp: ENST00000309336.3:c.1149A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10088
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3418
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu383Glu
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

8-124117646-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124117646
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124117646
    reference: chr 8
allele count: 11
allele frequency: 9.5249640649083e-5
allele num: 115486
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.836G>C
  hgvsp: ENSP00000367320.2:p.Ser279Thr
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.836G>C
  hgvsp: ENSP00000430628.1:p.Ser279Thr
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.155G>C
  hgvsp: ENSP00000430927.1:p.Ser52Thr
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1151G>C
  hgvsp: ENSP00000287380.1:p.Ser384Thr
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.836G>C
  hgvsp: ENSP00000429334.1:p.Ser279Thr
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1151G>C
  hgvsp: ENSP00000312701.5:p.Ser384Thr
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1151G>C
  hgvsp: ENSP00000308358.3:p.Ser384Thr
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.50G>C
  hgvsp: ENSP00000429494.1:p.Ser17Thr
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*792G>C
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10227
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44018
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2949
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser384Thr
num of homozygotes: 1
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/8-124117648-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124117648
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124117648
    reference: chr 8
allele count: 2
allele frequency: 1.726400110489607e-5
allele num: 115848
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1153A>C
  hgvsp: ENSP00000287380.1:p.Lys385Gln
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1153A>C
  hgvsp: ENSP00000308358.3:p.Lys385Gln
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*794A>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.157A>C
  hgvsp: ENSP00000430927.1:p.Lys53Gln
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.52A>C
  hgvsp: ENSP00000429494.1:p.Lys18Gln
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1153A>C
  hgvsp: ENSP00000312701.5:p.Lys385Gln
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.838A>C
  hgvsp: ENSP00000429334.1:p.Lys280Gln
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.838A>C
  hgvsp: ENSP00000367320.2:p.Lys280Gln
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.838A>C
  hgvsp: ENSP00000430628.1:p.Lys280Gln
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10340
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys385Gln
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

8-124117659-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124117659
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124117659
    reference: chr 8
allele count: 1
allele frequency: 8.590917681826773e-6
allele num: 116402
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1164T>C
  hgvsp: ENST00000287380.1:c.1164T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.849T>C
  hgvsp: ENST00000522420.1:c.849T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1164T>C
  hgvsp: ENST00000327098.5:c.1164T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1164T>C
  hgvsp: ENST00000309336.3:c.1164T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.63T>C
  hgvsp: ENST00000518805.1:c.63T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.849T>C
  hgvsp: ENST00000378080.2:c.849T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*805T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.849T>C
  hgvsp: ENST00000521676.1:c.849T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.168T>C
  hgvsp: ENST00000519418.1:c.168T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10636
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr388Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

8-124117663-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124117663
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124117663
    reference: chr 8
allele count: 2
allele frequency: 1.718980988070272e-5
allele num: 116348
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1168A>G
  hgvsp: ENSP00000287380.1:p.Ile390Val
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.172A>G
  hgvsp: ENSP00000430927.1:p.Ile58Val
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1168A>G
  hgvsp: ENSP00000308358.3:p.Ile390Val
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.853A>G
  hgvsp: ENSP00000367320.2:p.Ile285Val
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.853A>G
  hgvsp: ENSP00000429334.1:p.Ile285Val
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.67A>G
  hgvsp: ENSP00000429494.1:p.Ile23Val
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*809A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.853A>G
  hgvsp: ENSP00000430628.1:p.Ile285Val
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1168A>G
  hgvsp: ENSP00000312701.5:p.Ile390Val
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10674
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile390Val
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

8-124117675-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124117675
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124117675
    reference: chr 8
allele count: 1
allele frequency: 8.663109016563865e-6
allele num: 115432
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.865G>T
  hgvsp: ENSP00000367320.2:p.Asp289Tyr
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.79G>T
  hgvsp: ENSP00000429494.1:p.Asp27Tyr
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1180G>T
  hgvsp: ENSP00000287380.1:p.Asp394Tyr
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1180G>T
  hgvsp: ENSP00000308358.3:p.Asp394Tyr
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.865G>T
  hgvsp: ENSP00000429334.1:p.Asp289Tyr
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.184G>T
  hgvsp: ENSP00000430927.1:p.Asp62Tyr
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*821G>T
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1180G>T
  hgvsp: ENSP00000312701.5:p.Asp394Tyr
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.865G>T
  hgvsp: ENSP00000430628.1:p.Asp289Tyr
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10797
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49278
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp394Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/8-124117677-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124117677
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124117677
    reference: chr 8
allele count: 5
allele frequency: 4.338620665717955e-5
allele num: 115244
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.867C>A
  hgvsp: ENSP00000430628.1:p.Asp289Glu
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.186C>A
  hgvsp: ENSP00000430927.1:p.Asp62Glu
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1182C>A
  hgvsp: ENSP00000287380.1:p.Asp394Glu
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1182C>A
  hgvsp: ENSP00000308358.3:p.Asp394Glu
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.81C>A
  hgvsp: ENSP00000429494.1:p.Asp27Glu
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.867C>A
  hgvsp: ENSP00000429334.1:p.Asp289Glu
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.867C>A
  hgvsp: ENSP00000367320.2:p.Asp289Glu
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1182C>A
  hgvsp: ENSP00000312701.5:p.Asp394Glu
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*823C>A
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10801
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49108
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp394Glu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

8-124117684-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124117684
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124117684
    reference: chr 8
allele count: 1
allele frequency: 8.786574114752658e-6
allele num: 113810
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.193G>A
  hgvsp: ENSP00000430927.1:p.Gly65Ser
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1189G>A
  hgvsp: ENSP00000308358.3:p.Gly397Ser
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.874G>A
  hgvsp: ENSP00000429334.1:p.Gly292Ser
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.88G>A
  hgvsp: ENSP00000429494.1:p.Gly30Ser
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1189G>A
  hgvsp: ENSP00000312701.5:p.Gly397Ser
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1189G>A
  hgvsp: ENSP00000287380.1:p.Gly397Ser
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*830G>A
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.874G>A
  hgvsp: ENSP00000367320.2:p.Gly292Ser
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.874G>A
  hgvsp: ENSP00000430628.1:p.Gly292Ser
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3520
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10791
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly397Ser
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum

8-124117692-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124117692
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124117692
    reference: chr 8
allele count: 1
allele frequency: 8.97037980588098e-6
allele num: 111478
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.882T>C
  hgvsp: ENST00000378080.2:c.882T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.882T>C
  hgvsp: ENST00000521676.1:c.882T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.201T>C
  hgvsp: ENST00000519418.1:c.201T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1197T>C
  hgvsp: ENST00000327098.5:c.1197T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*838T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.882T>C
  hgvsp: ENST00000522420.1:c.882T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1197T>C
  hgvsp: ENST00000309336.3:c.1197T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1197T>C
  hgvsp: ENST00000287380.1:c.1197T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.96T>C
  hgvsp: ENST00000518805.1:c.96T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4757
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36887
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5564
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Phe399Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

8-124117693-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124117693
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124117693
    reference: chr 8
allele count: 1
allele frequency: 8.999928000575996e-6
allele num: 111112
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1198G>C
  hgvsp: ENSP00000312701.5:p.Glu400Gln
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.97G>C
  hgvsp: ENSP00000429494.1:p.Glu33Gln
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1198G>C
  hgvsp: ENSP00000308358.3:p.Glu400Gln
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*839G>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.883G>C
  hgvsp: ENSP00000429334.1:p.Glu295Gln
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.202G>C
  hgvsp: ENSP00000430927.1:p.Glu68Gln
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.883G>C
  hgvsp: ENSP00000430628.1:p.Glu295Gln
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1198G>C
  hgvsp: ENSP00000287380.1:p.Glu400Gln
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.883G>C
  hgvsp: ENSP00000367320.2:p.Glu295Gln
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5909
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4894
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu400Gln
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ

8-124117705-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124117705
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124117705
    reference: chr 8
allele count: 1
allele frequency: 9.44929508258684e-6
allele num: 105828
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.894+1G>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.213+1G>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.108+1G>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1209+1G>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1209+1G>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.894+1G>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*850+1G>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1209+1G>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.894+1G>C
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8824
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11587
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34442
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 9.75e1
  variant carriers: 1
hgvs: c.1209+1G>C
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/8-124117710-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124117710
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124117710
    reference: chr 8
allele count: 1
allele frequency: 9.791250538518779e-6
allele num: 102132
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1209+6A>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.213+6A>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.894+6A>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*850+6A>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.894+6A>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.108+6A>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1209+6A>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1209+6A>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.894+6A>C
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16704
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3663
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8922
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7165
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4362
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3881
  bin: 2.75e1
  variant carriers: 0
hgvs: c.1209+6A>C
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

8-124117718-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124117718
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124117718
    reference: chr 8
allele count: 1
allele frequency: 1.002144589421362e-5
allele num: 99786
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.108+14G>T
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*850+14G>T
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1209+14G>T
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.894+14G>T
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1209+14G>T
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.894+14G>T
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.894+14G>T
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.213+14G>T
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1209+14G>T
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9807
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4602
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19765
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18459
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21492
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19841
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ

8-124117720-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124117720
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124117720
    reference: chr 8
allele count: 1
allele frequency: 1.008735650735368e-5
allele num: 99134
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.108+16A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1209+16A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1209+16A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.894+16A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.894+16A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.213+16A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.894+16A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1209+16A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*850+16A>G
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17102
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20825
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5588
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4976
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5902
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/8-124117721-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124117721
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124117721
    reference: chr 8
allele count: 2
allele frequency: 2.027821713914913e-5
allele num: 98628
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.894+17A>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.213+17A>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.894+17A>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.108+17A>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1209+17A>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*850+17A>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1209+17A>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.894+17A>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1209+17A>C
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5329
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21502
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3149
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5127
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20642
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6230
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD

8-124117730-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124117730
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124117730
    reference: chr 8
allele count: 2
allele frequency: 2.099164532516059e-5
allele num: 95276
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.894+26T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.213+26T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.894+26T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1209+26T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.108+26T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*850+26T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1209+26T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.894+26T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1209+26T>C
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11483
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7734
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4440
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12666
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5974
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

8-124117752-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124117752
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124117752
    reference: chr 8
allele count: 1
allele frequency: 1.183319922374213e-5
allele num: 84508
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*850+48A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.894+48A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.213+48A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1209+48A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1209+48A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.894+48A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.108+48A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.894+48A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1209+48A>G
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22079
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15705
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2502
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4089
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1160
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4944
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

8-124121533-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124121533
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124121533
    reference: chr 8
allele count: 1
allele frequency: 8.695954641900589e-6
allele num: 114996
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*851-24T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1210-24T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.895-24T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.895-24T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.214-24T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.109-24T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.895-24T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1210-24T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1210-24T>C
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11547
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6316
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21856
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4288
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

8-124121537-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124121537
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124121537
    reference: chr 8
allele count: 4
allele frequency: 3.457336467985064e-5
allele num: 115696
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1210-20T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.109-20T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1210-20T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.895-20T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1210-20T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*851-20T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.214-20T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.895-20T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.895-20T>C
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24237
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11796
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7736
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2857
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

8-124121542-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124121542
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124121542
    reference: chr 8
allele count: 1
allele frequency: 8.578389321620972e-6
allele num: 116572
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1210-15T>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1210-15T>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.895-15T>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1210-15T>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.214-15T>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.895-15T>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*851-15T>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.895-15T>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.109-15T>G
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4047
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7878
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24189
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ

8-124121548-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124121548
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124121548
    reference: chr 8
allele count: 8
allele frequency: 6.807699508143711e-5
allele num: 117514
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.895-9T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.895-9T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.109-9T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1210-9T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1210-9T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.214-9T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*851-9T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1210-9T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.895-9T>C
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7994
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26211
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1762
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3789
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2452
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

8-124121549-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124121549
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124121549
    reference: chr 8
allele count: 1
allele frequency: 8.499065102838687e-6
allele num: 117660
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.895-8C>T
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.895-8C>T
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.109-8C>T
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.895-8C>T
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1210-8C>T
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*851-8C>T
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1210-8C>T
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1210-8C>T
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.214-8C>T
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3791
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
hgvs: c.1210-8C>T
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum

8-124121553-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124121553
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124121553
    reference: chr 8
allele count: 190
allele frequency: 1.606439285049969e-3
allele num: 118274
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.214-4G>A
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1210-4G>A
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.895-4G>A
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.895-4G>A
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1210-4G>A
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.895-4G>A
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.109-4G>A
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*851-4G>A
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1210-4G>A
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 4.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 4088
  bin: 3.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 12482
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26709
  bin: 2.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 8084
  bin: 3.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 4.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
hgvs: c.1210-4G>A
num of homozygotes: 1
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

8-124121559-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124121559
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124121559
    reference: chr 8
allele count: 1
allele frequency: 8.407317729351627e-6
allele num: 118944
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1212T>C
  hgvsp: ENST00000309336.3:c.1212T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.111T>C
  hgvsp: ENST00000518805.1:c.111T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1212T>C
  hgvsp: ENST00000287380.1:c.1212T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*853T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.216T>C
  hgvsp: ENST00000519418.1:c.216T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.897T>C
  hgvsp: ENST00000522420.1:c.897T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.897T>C
  hgvsp: ENST00000521676.1:c.897T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.897T>C
  hgvsp: ENST00000378080.2:c.897T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1212T>C
  hgvsp: ENST00000327098.5:c.1212T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12661
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8143
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26412
  bin: 6.25e1
  variant carriers: 0
hgvs: c.1212T>C
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

8-124121572-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124121572
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124121572
    reference: chr 8
allele count: 22
allele frequency: 1.838665463176545e-4
allele num: 119652
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.910G>A
  hgvsp: ENSP00000430628.1:p.Gly304Arg
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1225G>A
  hgvsp: ENSP00000312701.5:p.Gly409Arg
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1225G>A
  hgvsp: ENSP00000287380.1:p.Gly409Arg
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1225G>A
  hgvsp: ENSP00000308358.3:p.Gly409Arg
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.910G>A
  hgvsp: ENSP00000429334.1:p.Gly304Arg
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*866G>A
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.124G>A
  hgvsp: ENSP00000429494.1:p.Gly42Arg
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.910G>A
  hgvsp: ENSP00000367320.2:p.Gly304Arg
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.229G>A
  hgvsp: ENSP00000430927.1:p.Gly77Arg
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12863
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8258
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27236
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4130
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3882
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly409Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

8-124121585-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124121585
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124121585
    reference: chr 8
allele count: 15
allele frequency: 1.251063403893309e-4
allele num: 119898
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1238A>G
  hgvsp: ENSP00000308358.3:p.Lys413Arg
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1238A>G
  hgvsp: ENSP00000312701.5:p.Lys413Arg
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*879A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.242A>G
  hgvsp: ENSP00000430927.1:p.Lys81Arg
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.923A>G
  hgvsp: ENSP00000429334.1:p.Lys308Arg
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1238A>G
  hgvsp: ENSP00000287380.1:p.Lys413Arg
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.137A>G
  hgvsp: ENSP00000429494.1:p.Lys46Arg
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.923A>G
  hgvsp: ENSP00000430628.1:p.Lys308Arg
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.923A>G
  hgvsp: ENSP00000367320.2:p.Lys308Arg
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000432064
  ensembl transcript: ENST00000518577
  gene symbol: TBC1D31
  hgvsc: ENST00000518577.1:c.12A>G
  hgvsp: ENSP00000432064.1:p.Lys5Arg
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4140
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8300
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys413Arg
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP

8-124121588-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124121588
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124121588
    reference: chr 8
allele count: 208
allele frequency: 1.733940212407676e-3
allele num: 119958
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.140G>A
  hgvsp: ENSP00000429494.1:p.Arg47His
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.926G>A
  hgvsp: ENSP00000429334.1:p.Arg309His
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*882G>A
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1241G>A
  hgvsp: ENSP00000287380.1:p.Arg414His
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1241G>A
  hgvsp: ENSP00000312701.5:p.Arg414His
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1241G>A
  hgvsp: ENSP00000308358.3:p.Arg414His
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.245G>A
  hgvsp: ENSP00000430927.1:p.Arg82His
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000432064
  ensembl transcript: ENST00000518577
  gene symbol: TBC1D31
  hgvsc: ENST00000518577.1:c.15G>A
  hgvsp: ENSP00000432064.1:p.Arg6His
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.926G>A
  hgvsp: ENSP00000367320.2:p.Arg309His
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.926G>A
  hgvsp: ENSP00000430628.1:p.Arg309His
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 8285
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12924
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 27164
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4139
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 9.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 9927
  bin: 9.75e1
  variant carriers: 204
hgvs: p.Arg414His
num of homozygotes: 3
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

8-124121592-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124121592
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124121592
    reference: chr 8
allele count: 3
allele frequency: 2.50075022506752e-5
allele num: 119964
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1245A>G
  hgvsp: ENST00000309336.3:c.1245A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.930A>G
  hgvsp: ENST00000521676.1:c.930A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*886A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.144A>G
  hgvsp: ENST00000518805.1:c.144A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.249A>G
  hgvsp: ENST00000519418.1:c.249A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.930A>G
  hgvsp: ENST00000378080.2:c.930A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1245A>G
  hgvsp: ENST00000287380.1:c.1245A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1245A>G
  hgvsp: ENST00000327098.5:c.1245A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000432064
  ensembl transcript: ENST00000518577
  gene symbol: TBC1D31
  hgvsc: ENST00000518577.1:c.19A>G
  hgvsp: ENST00000518577.1:c.19A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.930A>G
  hgvsp: ENST00000522420.1:c.930A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4143
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2501
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu415Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/8-124121598-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124121598
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124121598
    reference: chr 8
allele count: 1
allele frequency: 8.335695113615524e-6
allele num: 119966
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.936C>A
  hgvsp: ENST00000522420.1:c.936C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1251C>A
  hgvsp: ENST00000309336.3:c.1251C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000432064
  ensembl transcript: ENST00000518577
  gene symbol: TBC1D31
  hgvsc: ENST00000518577.1:c.25C>A
  hgvsp: ENST00000518577.1:c.25C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.936C>A
  hgvsp: ENST00000521676.1:c.936C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.255C>A
  hgvsp: ENST00000519418.1:c.255C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*892C>A
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.936C>A
  hgvsp: ENST00000378080.2:c.936C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1251C>A
  hgvsp: ENST00000327098.5:c.1251C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1251C>A
  hgvsp: ENST00000287380.1:c.1251C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.150C>A
  hgvsp: ENST00000518805.1:c.150C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile417Ile
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

8-124121609-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124121609
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124121609
    reference: chr 8
allele count: 1
allele frequency: 8.339170752860335e-6
allele num: 119916
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000432064
  ensembl transcript: ENST00000518577
  gene symbol: TBC1D31
  hgvsc: ENST00000518577.1:c.36G>A
  hgvsp: ENSP00000432064.1:p.Gly13Asp
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.947G>A
  hgvsp: ENSP00000430628.1:p.Gly316Asp
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.947G>A
  hgvsp: ENSP00000429334.1:p.Gly316Asp
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.947G>A
  hgvsp: ENSP00000367320.2:p.Gly316Asp
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.266G>A
  hgvsp: ENSP00000430927.1:p.Gly89Asp
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.161G>A
  hgvsp: ENSP00000429494.1:p.Gly54Asp
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1262G>A
  hgvsp: ENSP00000312701.5:p.Gly421Asp
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1262G>A
  hgvsp: ENSP00000287380.1:p.Gly421Asp
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*903G>A
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1262G>A
  hgvsp: ENSP00000308358.3:p.Gly421Asp
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly421Asp
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD

8-124121611-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124121611
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124121611
    reference: chr 8
allele count: 1
allele frequency: 8.339170752860335e-6
allele num: 119916
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.949T>C
  hgvsp: ENSP00000367320.2:p.Tyr317His
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.163T>C
  hgvsp: ENSP00000429494.1:p.Tyr55His
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*905T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.949T>C
  hgvsp: ENSP00000430628.1:p.Tyr317His
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1264T>C
  hgvsp: ENSP00000312701.5:p.Tyr422His
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000432064
  ensembl transcript: ENST00000518577
  gene symbol: TBC1D31
  hgvsc: ENST00000518577.1:c.38T>C
  hgvsp: ENSP00000432064.1:p.Tyr14His
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.268T>C
  hgvsp: ENSP00000430927.1:p.Tyr90His
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1264T>C
  hgvsp: ENSP00000287380.1:p.Tyr422His
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.949T>C
  hgvsp: ENSP00000429334.1:p.Tyr317His
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1264T>C
  hgvsp: ENSP00000308358.3:p.Tyr422His
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4144
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Tyr422His
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

8-124121612-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124121612
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124121612
    reference: chr 8
allele count: 1
allele frequency: 8.339309838717748e-6
allele num: 119914
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.164A>G
  hgvsp: ENSP00000429494.1:p.Tyr55Cys
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1265A>G
  hgvsp: ENSP00000312701.5:p.Tyr422Cys
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.950A>G
  hgvsp: ENSP00000429334.1:p.Tyr317Cys
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.269A>G
  hgvsp: ENSP00000430927.1:p.Tyr90Cys
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1265A>G
  hgvsp: ENSP00000308358.3:p.Tyr422Cys
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1265A>G
  hgvsp: ENSP00000287380.1:p.Tyr422Cys
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000432064
  ensembl transcript: ENST00000518577
  gene symbol: TBC1D31
  hgvsc: ENST00000518577.1:c.39A>G
  hgvsp: ENSP00000432064.1:p.Tyr14Cys
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.950A>G
  hgvsp: ENSP00000430628.1:p.Tyr317Cys
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.950A>G
  hgvsp: ENSP00000367320.2:p.Tyr317Cys
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*906A>G
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4143
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Tyr422Cys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP

8-124121613-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124121613
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124121612
    reference: chr 8
allele count: 1
allele frequency: 8.339448929214757e-6
allele num: 119912
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1268delG
  hgvsp: ENSP00000312701.5:p.Gly423ValfsTer29
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.167delG
  hgvsp: ENSP00000429494.1:p.Gly56ValfsTer29
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.953delG
  hgvsp: ENSP00000429334.1:p.Gly318ValfsTer29
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.272delG
  hgvsp: ENSP00000430927.1:p.Gly91ValfsTer29
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*909delG
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.953delG
  hgvsp: ENSP00000367320.2:p.Gly318ValfsTer29
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.953delG
  hgvsp: ENSP00000430628.1:p.Gly318ValfsTer11
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1268delG
  hgvsp: ENSP00000287380.1:p.Gly423ValfsTer29
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000432064
  ensembl transcript: ENST00000518577
  gene symbol: TBC1D31
  hgvsc: ENST00000518577.1:c.42delG
  hgvsp: ENSP00000432064.1:p.Gly15ValfsTer29
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1268delG
  hgvsp: ENSP00000308358.3:p.Gly423ValfsTer29
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4143
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26985
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly423ValfsTer29
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: TG
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

8-124121620-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124121620
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124121620
    reference: chr 8
allele count: 1
allele frequency: 8.341118377152009e-6
allele num: 119888
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.277T>C
  hgvsp: ENSP00000430927.1:p.Tyr93His
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*914T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.958T>C
  hgvsp: ENSP00000367320.2:p.Tyr320His
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000432064
  ensembl transcript: ENST00000518577
  gene symbol: TBC1D31
  hgvsc: ENST00000518577.1:c.47T>C
  hgvsp: ENSP00000432064.1:p.Tyr17His
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.172T>C
  hgvsp: ENSP00000429494.1:p.Tyr58His
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.958T>C
  hgvsp: ENSP00000430628.1:p.Tyr320His
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1273T>C
  hgvsp: ENSP00000287380.1:p.Tyr425His
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.958T>C
  hgvsp: ENSP00000429334.1:p.Tyr320His
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1273T>C
  hgvsp: ENSP00000312701.5:p.Tyr425His
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1273T>C
  hgvsp: ENSP00000308358.3:p.Tyr425His
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4146
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Tyr425His
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/8-124121628-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124121628
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124121628
    reference: chr 8
allele count: 2
allele frequency: 1.668641225450116e-5
allele num: 119858
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1281A>C
  hgvsp: ENST00000287380.1:c.1281A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000432064
  ensembl transcript: ENST00000518577
  gene symbol: TBC1D31
  hgvsc: ENST00000518577.1:c.55A>C
  hgvsp: ENST00000518577.1:c.55A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.285A>C
  hgvsp: ENST00000519418.1:c.285A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1281A>C
  hgvsp: ENST00000309336.3:c.1281A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.966A>C
  hgvsp: ENST00000378080.2:c.966A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*922A>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1281A>C
  hgvsp: ENST00000327098.5:c.1281A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.180A>C
  hgvsp: ENST00000518805.1:c.180A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.966A>C
  hgvsp: ENST00000521676.1:c.966A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.966A>C
  hgvsp: ENST00000522420.1:c.966A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr427Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

8-124121638-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124121638
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124121637
    reference: chr 8
allele count: 3
allele frequency: 2.503337783711615e-5
allele num: 119840
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1289+3delA
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000432064
  ensembl transcript: ENST00000518577
  gene symbol: TBC1D31
  hgvsc: ENST00000518577.1:c.63+3delA
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*930+3delA
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.974+3delA
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.293+3delA
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.974+3delA
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1289+3delA
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1289+3delA
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.188+3delA
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.974+3delA
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12974
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26627
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8311
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
hgvs: c.1289+3delA
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: TA
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/8-124121641-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124121641
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124121641
    reference: chr 8
allele count: 11
allele frequency: 9.178598845165382e-5
allele num: 119844
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.293+5A>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.974+5A>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.974+5A>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1289+5A>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000432064
  ensembl transcript: ENST00000518577
  gene symbol: TBC1D31
  hgvsc: ENST00000518577.1:c.63+5A>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.188+5A>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.974+5A>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1289+5A>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*930+5A>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1289+5A>C
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8309
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12974
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26569
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1289+5A>C
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

8-124121642-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124121642
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124121642
    reference: chr 8
allele count: 2
allele frequency: 1.668919708272835e-5
allele num: 119838
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1289+6A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1289+6A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.188+6A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000432064
  ensembl transcript: ENST00000518577
  gene symbol: TBC1D31
  hgvsc: ENST00000518577.1:c.63+6A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.293+6A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.974+6A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.974+6A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*930+6A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1289+6A>G
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.974+6A>G
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
hgvs: c.1289+6A>G
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

8-124121656-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124121656
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124121656
    reference: chr 8
allele count: 1
allele frequency: 8.348360382020972e-6
allele num: 119784
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.188+20T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1289+20T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000432064
  ensembl transcript: ENST00000518577
  gene symbol: TBC1D31
  hgvsc: ENST00000518577.1:c.63+20T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.974+20T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1289+20T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.974+20T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*930+20T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.293+20T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1289+20T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.974+20T>C
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8312
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4163
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/8-124121674-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124121674
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124121674
    reference: chr 8
allele count: 3
allele frequency: 2.527252202921504e-5
allele num: 118706
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.293+38C>A
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*930+38C>A
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000432064
  ensembl transcript: ENST00000518577
  gene symbol: TBC1D31
  hgvsc: ENST00000518577.1:c.63+38C>A
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1289+38C>A
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.974+38C>A
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.974+38C>A
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1289+38C>A
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1289+38C>A
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.974+38C>A
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.188+38C>A
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24841
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1787
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9855
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/8-124121674-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124121674
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124121675
    reference: chr 8
allele count: 9
allele frequency: 7.581756608764511e-5
allele num: 118706
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.975-32dupA
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.189-32dupA
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1290-32dupA
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000432064
  ensembl transcript: ENST00000518577
  gene symbol: TBC1D31
  hgvsc: ENST00000518577.1:c.64-32dupA
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.975-32dupA
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*931-32dupA
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1290-32dupA
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.294-32dupA
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1290-32dupA
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.974+46dupA
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24841
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9855
  bin: 9.75e1
  variant carriers: 9
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/8-124121674-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124121674
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124121673
    reference: chr 8
allele count: 12
allele frequency: 1.010900881168601e-4
allele num: 118706
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.974+46delA
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000432064
  ensembl transcript: ENST00000518577
  gene symbol: TBC1D31
  hgvsc: ENST00000518577.1:c.64-32delA
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.975-32delA
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.189-32delA
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.294-32delA
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.975-32delA
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1290-32delA
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1290-32delA
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1290-32delA
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*931-32delA
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24841
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8569
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12980
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: CA
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

8-124121680-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124121680
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124121680
    reference: chr 8
allele count: 1
allele frequency: 8.350451759440186e-6
allele num: 119754
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.189-34A>T
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429334
  ensembl transcript: ENST00000522420
  gene symbol: TBC1D31
  hgvsc: ENST00000522420.1:c.975-34A>T
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000432064
  ensembl transcript: ENST00000518577
  gene symbol: TBC1D31
  hgvsc: ENST00000518577.1:c.64-34A>T
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.975-34A>T
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1290-34A>T
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000440772
  ensembl transcript: ENST00000524307
  gene symbol: TBC1D31
  hgvsc: ENST00000524307.1:c.*931-34A>T
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.974+44A>T
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430927
  ensembl transcript: ENST00000519418
  gene symbol: TBC1D31
  hgvsc: ENST00000519418.1:c.294-34A>T
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1290-34A>T
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1290-34A>T
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4308
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD

8-124121683-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124121683
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 124121683
    reference: chr 8
allele count: 1
allele frequency: 8.355056480181806e-6
allele num: 119688
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000430628
  ensembl transcript: ENST00000521676
  gene symbol: TBC1D31
  hgvsc: ENST00000521676.1:c.974+47T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000312701
  ensembl transcript: ENST00000327098
  gene symbol: TBC1D31
  hgvsc: ENST00000327098.5:c.1290-31T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000367320
  ensembl transcript: ENST00000378080
  gene symbol: TBC1D31
  hgvsc: ENST00000378080.2:c.975-31T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000287380
  ensembl transcript: ENST00000287380
  gene symbol: TBC1D31
  hgvsc: ENST00000287380.1:c.1290-31T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000308358
  ensembl transcript: ENST00000309336
  gene symbol: TBC1D31
  hgvsc: ENST00000309336.3:c.1290-31T>C
  variant of: http://identifiers.org/hgnc/30888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156787
  ensembl protein: ENSP00000429494
  ensembl transcript: ENST00000518805
  gene symbol: TBC1D31
  hgvsc: ENST00000518805.1:c.189-31T>C
  variant of: http://identifiers.org/hgnc/30888
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 695
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 32
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 80
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1005
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.313025210084034e-4
allele num: 7616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3866
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1592
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.532e0

MQ
type: SiteQuality
SIO_000300: 5.414e1

DP
type: SiteQuality
SIO_000300: 2.49504e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.37e-1

QD
type: SiteQuality
SIO_000300: 8.960000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e0

VQSLOD
type: SiteQuality
SIO_000300: -2.329e0

MQRankSum
type: SiteQuality
SIO_000300: -2.24e0

GenotypeQuality
all individuals: 273
bin: 6.25e1
variant carriers: 52

GenotypeQuality
all individuals: 83
bin: 1.25e1
variant carriers: 80

GenotypeQuality
all individuals: 52
bin: 1.75e1
variant carriers: 37

GenotypeQuality
all individuals: 5439
bin: 9.75e1
variant carriers: 5006

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 5

GenotypeQuality
all individuals: 65
bin: 5.25e1
variant carriers: 29

GenotypeQuality
all individuals: 218
bin: 9.25e1
variant carriers: 127

GenotypeQuality
all individuals: 141
bin: 7.25e1
variant carriers: 47

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 11

GenotypeQuality
all individuals: 486
bin: 7.5e0
variant carriers: 135

GenotypeQuality
all individuals: 381
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 136
bin: 8.75e1
variant carriers: 63

GenotypeQuality
all individuals: 224
bin: 7.75e1
variant carriers: 80

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 21

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 8

GenotypeQuality
all individuals: 214
bin: 6.75e1
variant carriers: 56

GenotypeQuality
all individuals: 262
bin: 8.25e1
variant carriers: 113

East Asian
type: Population
allele count: 61
allele frequency: 3.080808080808081e-1
allele num: 198
num of homozygotes: 12

Other
type: Population
allele count: 104
allele frequency: 5.714285714285714e-1
allele num: 182
num of homozygotes: 28

Latino
type: Population
allele count: 105
allele frequency: 5.585106382978723e-1
allele num: 188
num of homozygotes: 33

South Asian
type: Population
allele count: 4125
allele frequency: 5.416228991596639e-1
allele num: 7616
num of homozygotes: 1153

European (Non-Finnish)
type: Population
allele count: 2073
allele frequency: 5.364906832298136e-1
allele num: 3864
num of homozygotes: 575

African
type: Population
allele count: 430
allele frequency: 7.678571428571429e-1
allele num: 560
num of homozygotes: 171

European (Finnish)
type: Population
allele count: 946
allele frequency: 5.979772439949431e-1
allele num: 1582
num of homozygotes: 264

BaseQRankSum
type: SiteQuality
SIO_000300: 3.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.760000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.4e-1

QD
type: SiteQuality
SIO_000300: 2.247e1

MQRankSum
type: SiteQuality
SIO_000300: -4.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.90276e5

MQ
type: SiteQuality
SIO_000300: 5.866e1

GenotypeQuality
all individuals: 320
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 66
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1219
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1026
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15692
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 101
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 898
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 144
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 6.675567423230974e-4
allele num: 1498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5494
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 350
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 416
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.78e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

QD
type: SiteQuality
SIO_000300: 1.554e1

DP
type: SiteQuality
SIO_000300: 1.93711e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.52e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.33e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 607
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 979
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 835
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21258
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1910
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 142
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 6.675567423230974e-4
allele num: 1498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5426
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 346
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 422
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.17e0

FS
type: SiteQuality
SIO_000300: 2.2034e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.34e-2

VQSLOD
type: SiteQuality
SIO_000300: -9.385e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.37e-1

DP
type: SiteQuality
SIO_000300: 2.22849e5

GenotypeQuality
all individuals: 3526
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21258
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 979
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 48
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 835
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1910
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 87
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 422
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 346
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.371913011426465e-4
allele num: 5426
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.224199288256228e-4
allele num: 4496
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 142
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.97e-1

DP
type: SiteQuality
SIO_000300: 2.22849e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.34e-2

QD
type: SiteQuality
SIO_000300: 1.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.37e-1

FS
type: SiteQuality
SIO_000300: 2.2034e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.385e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.97e-1

GenotypeQuality
all individuals: 193
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6570
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1812
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3445
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 190
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 126
bin: 7.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5442
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 422
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 346
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 144
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4572
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.433e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.260000000000001e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

DP
type: SiteQuality
SIO_000300: 2.24452e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

GenotypeQuality
all individuals: 22544
bin: 7.5e0
variant carriers: 3

GenotypeQuality
all individuals: 586
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 967
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 129
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 90
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5618
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 931
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 72
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5656
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 6.443298969072165e-3
allele num: 1552
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 362
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4966
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 428
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.88e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

DP
type: SiteQuality
SIO_000300: 2.31478e5

FS
type: SiteQuality
SIO_000300: 7.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.15e-1

QD
type: SiteQuality
SIO_000300: 1.877e1

GenotypeQuality
all individuals: 18139
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27253
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1007
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 213
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 610
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 772
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 899
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8612
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 978
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.124087591240875e-5
allele num: 10960
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2794
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8052
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 276
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.31044e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

QD
type: SiteQuality
SIO_000300: 1.595e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.35e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.99e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

GenotypeQuality
all individuals: 217
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 67
bin: 8.75e1
variant carriers: 8

GenotypeQuality
all individuals: 225
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 612
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28442
bin: 2.25e1
variant carriers: 4

GenotypeQuality
all individuals: 16592
bin: 7.5e0
variant carriers: 5

GenotypeQuality
all individuals: 98
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 4.75e1
variant carriers: 3

GenotypeQuality
all individuals: 436
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8834
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 846
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 388
bin: 9.75e1
variant carriers: 53

GenotypeQuality
all individuals: 96
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 927
bin: 6.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 45
allele frequency: 3.92601640202408e-3
allele num: 11462
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 676
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 1.821493624772313e-3
allele num: 1098
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8116
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2890
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.143e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

QD
type: SiteQuality
SIO_000300: 1.396e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.35e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.03e-2

DP
type: SiteQuality
SIO_000300: 5.45401e5

GenotypeQuality
all individuals: 232
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 864
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14498
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 960
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 976
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 221
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 310
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8200
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3054
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1310
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 944
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 8.112932013629726e-5
allele num: 12326
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

DP
type: SiteQuality
SIO_000300: 5.653e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.66e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.29e-1

QD
type: SiteQuality
SIO_000300: 1.218e1

GenotypeQuality
all individuals: 225
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 291
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8695
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1059
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 755
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1307
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1151
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10895
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 202
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1096
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1344
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1948
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 352
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3808
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.499415052645263e-5
allele num: 15386
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.447e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.133e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.39e0

DP
type: SiteQuality
SIO_000300: 6.28556e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.75e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

VQSLOD
type: SiteQuality
SIO_000300: -1.666e0

GenotypeQuality
all individuals: 199
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1095
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11772
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6950
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1330
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 206
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.146263182026593e-4
allele num: 8724
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1314
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4096
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 368
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1514
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.49e-2

DP
type: SiteQuality
SIO_000300: 6.53204e5

MQRankSum
type: SiteQuality
SIO_000300: -7.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.07e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.54e-1

QD
type: SiteQuality
SIO_000300: 1.356e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.57e-1

GenotypeQuality
all individuals: 1306
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1539
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29476
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1777
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 314
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1462
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20700
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3398
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.950838860710105e-4
allele num: 10252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30538
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3866
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6410
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3574
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 540
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.83e-1

FS
type: SiteQuality
SIO_000300: 1.189e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

DP
type: SiteQuality
SIO_000300: 8.38674e5

GenotypeQuality
all individuals: 1411
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1112
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23378
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25304
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1228
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 187
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1716
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 781
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11286
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38774
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4564
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5218
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.040816326530612e-4
allele num: 4900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7512
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.253e1

MQRankSum
type: SiteQuality
SIO_000300: 3.51e-1

DP
type: SiteQuality
SIO_000300: 9.52761e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.03e0

GenotypeQuality
all individuals: 114
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1592
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1048
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1013
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1336
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1788
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20891
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42060
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4786
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.254390366281987e-4
allele num: 7972
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11694
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5392
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6100
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.007e0

VQSLOD
type: SiteQuality
SIO_000300: 8.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

DP
type: SiteQuality
SIO_000300: 1.001714e6

QD
type: SiteQuality
SIO_000300: 1.317e1

FS
type: SiteQuality
SIO_000300: 3.222e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e0

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

GenotypeQuality
all individuals: 259
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29156
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1598
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1787
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 648
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1112
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1066
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20394
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11756
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42642
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 684
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.479543763947434e-4
allele num: 8066
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4832
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6236
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.204e0

QD
type: SiteQuality
SIO_000300: 1.166e1

FS
type: SiteQuality
SIO_000300: 5.32e0

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

MQRankSum
type: SiteQuality
SIO_000300: 3.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

DP
type: SiteQuality
SIO_000300: 1.011101e6

GenotypeQuality
all individuals: 987
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17113
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1966
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1124
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1176
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 943
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 188
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 552
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32870
bin: 6.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5230
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12366
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6086
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.068239114643422e-4
allele num: 46806
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.73972602739726e-4
allele num: 7300
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.23e0

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

DP
type: SiteQuality
SIO_000300: 1.071317e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.299e1

GenotypeQuality
all individuals: 1176
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 107
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 363
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 81
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17113
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 943
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1124
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32870
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1451
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1966
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6086
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5230
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.086689309396733e-5
allele num: 12366
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7300
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.136478229286843e-5
allele num: 46806
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.299e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.23e0

DP
type: SiteQuality
SIO_000300: 1.071317e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 347
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1176
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1124
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1451
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1966
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 190
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 943
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 32870
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46806
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7300
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5230
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12366
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 1.150180742688137e-3
allele num: 6086
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

QD
type: SiteQuality
SIO_000300: 1.299e1

VQSLOD
type: SiteQuality
SIO_000300: 5.23e0

DP
type: SiteQuality
SIO_000300: 1.071317e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 94
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2057
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 976
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15437
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 57
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 760
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1423
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34043
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5406
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8788
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7780
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48780
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.584283903675539e-4
allele num: 12624
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.68e0

FS
type: SiteQuality
SIO_000300: 4.213e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.121e1

DP
type: SiteQuality
SIO_000300: 1.100506e6

VQSLOD
type: SiteQuality
SIO_000300: -5.51e-2

GenotypeQuality
all individuals: 1037
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 458
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10209
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 815
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40849
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 209
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 350
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13676
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.072271070126528e-4
allele num: 9326
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9342
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55064
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7316
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5896
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.3e-1

DP
type: SiteQuality
SIO_000300: 1.197108e6

VQSLOD
type: SiteQuality
SIO_000300: -3.077e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -7.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.62e0

QD
type: SiteQuality
SIO_000300: 1.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.98e-1

GenotypeQuality
all individuals: 116
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 44323
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 502
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 787
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2660
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 340
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 9.75e1
variant carriers: 196

GenotypeQuality
all individuals: 223
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7770
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.658536585365854e-3
allele num: 820
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 24
allele frequency: 3.927986906710311e-3
allele num: 6110
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 125
allele frequency: 2.15428098717772e-3
allele num: 58024
num of homozygotes: 1

African
type: Population
allele count: 3
allele frequency: 3.112678979041295e-4
allele num: 9638
num of homozygotes: 0

Latino
type: Population
allele count: 14
allele frequency: 1.391926824418373e-3
allele num: 10058
num of homozygotes: 0

South Asian
type: Population
allele count: 30
allele frequency: 2.09643605870021e-3
allele num: 14310
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.223e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-2

DP
type: SiteQuality
SIO_000300: 1.249803e6

FS
type: SiteQuality
SIO_000300: 1.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.93e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 530
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2802
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 286
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47019
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 116
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10458
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9858
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7984
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.663561352142667e-5
allele num: 60112
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14736
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6276
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-2

DP
type: SiteQuality
SIO_000300: 1.282699e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.079e0

FS
type: SiteQuality
SIO_000300: 1.983e0

VQSLOD
type: SiteQuality
SIO_000300: -7.116e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

QD
type: SiteQuality
SIO_000300: 3.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e-1

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

GenotypeQuality
all individuals: 4646
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47866
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 762
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 32
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2898
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8166
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9968
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15072
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6374
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.295408068414203e-5
allele num: 10758
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61670
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e0

MQRankSum
type: SiteQuality
SIO_000300: -6.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.373e0

FS
type: SiteQuality
SIO_000300: 1.971e0

QD
type: SiteQuality
SIO_000300: 1.474e1

VQSLOD
type: SiteQuality
SIO_000300: 6.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

DP
type: SiteQuality
SIO_000300: 1.309354e6

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

GenotypeQuality
all individuals: 313
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2918
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4218
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 366
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49373
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 400
bin: 3.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15194
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.767017155506364e-4
allele num: 10842
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10010
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62162
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.403e0

DP
type: SiteQuality
SIO_000300: 1.31765e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.75e-1

MQ
type: SiteQuality
SIO_000300: 5.893e1

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

QD
type: SiteQuality
SIO_000300: 1.37e1

VQSLOD
type: SiteQuality
SIO_000300: 6.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.26e-1

GenotypeQuality
all individuals: 400
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4099
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 210
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 521
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 86
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10868
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6428
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.605445671718469e-5
allele num: 62288
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10020
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8228
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15238
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.308e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.326e0

DP
type: SiteQuality
SIO_000300: 1.320404e6

VQSLOD
type: SiteQuality
SIO_000300: 6.34e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.85e-1

GenotypeQuality
all individuals: 153
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 86
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 50401
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2967
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11022
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63186
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10078
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.46830530401035e-5
allele num: 15460
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e-2

DP
type: SiteQuality
SIO_000300: 1.335225e6

MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.03e-1

FS
type: SiteQuality
SIO_000300: 1.091e0

MQRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.497e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

GenotypeQuality
all individuals: 496
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3385
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49876
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 253
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 5.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 9.053050878145935e-5
allele num: 11046
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10082
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63242
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 6.460783046905285e-4
allele num: 15478
num of homozygotes: 1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.979e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.79e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e-1

QD
type: SiteQuality
SIO_000300: 1.37e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.565e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.43e-2

DP
type: SiteQuality
SIO_000300: 1.337914e6

GenotypeQuality
all individuals: 304
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2981
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3221
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 474
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 50751
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 182
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8326
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15534
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11096
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.575746115785825e-5
allele num: 63462
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.908838684106223e-5
allele num: 10092
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

DP
type: SiteQuality
SIO_000300: 1.341386e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.198e1

GenotypeQuality
all individuals: 3167
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2969
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 86
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50912
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 1
allele frequency: 1.193032689095681e-4
allele num: 8382
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15630
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10114
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11164
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63738
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e0

QD
type: SiteQuality
SIO_000300: 1.206e1

VQSLOD
type: SiteQuality
SIO_000300: 5.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.115e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

FS
type: SiteQuality
SIO_000300: 3.628e0

DP
type: SiteQuality
SIO_000300: 1.345963e6

GenotypeQuality
all individuals: 540
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 480
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50488
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 528
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2970
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3340
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 187
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10098
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15620
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.962179602079225e-5
allele num: 11158
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.569267465946896e-5
allele num: 63724
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

DP
type: SiteQuality
SIO_000300: 1.343787e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.008e0

QD
type: SiteQuality
SIO_000300: 1.433e1

MQRankSum
type: SiteQuality
SIO_000300: 3.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.45e-1

GenotypeQuality
all individuals: 474
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4361
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 200
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 515
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2896
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 88
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 352
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 197
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.583230423355815e-5
allele num: 63162
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8304
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11098
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15530
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6482
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e-1

QD
type: SiteQuality
SIO_000300: 3.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.72e-1

FS
type: SiteQuality
SIO_000300: 1.81e0

VQSLOD
type: SiteQuality
SIO_000300: -3.153e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.664e0

DP
type: SiteQuality
SIO_000300: 1.329713e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.51e-1

GenotypeQuality
all individuals: 458
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 107
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2886
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4581
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 193
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 130
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 5.25e1
variant carriers: 1

East Asian
type: Population
allele count: 5
allele frequency: 6.027000964320154e-4
allele num: 8296
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63040
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9988
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11096
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15496
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.119e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 1.327141e6

MQRankSum
type: SiteQuality
SIO_000300: 5.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.619e0

FS
type: SiteQuality
SIO_000300: 1.0371e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.61e-1

QD
type: SiteQuality
SIO_000300: 9.109999999999999e0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 47250
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2752
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5929
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 761
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15316
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9878
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8196
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10942
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.607355257659048e-5
allele num: 62214
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.30513e6

VQSLOD
type: SiteQuality
SIO_000300: 5.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

FS
type: SiteQuality
SIO_000300: 5.738e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

QD
type: SiteQuality
SIO_000300: 9.68e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.07e-1

GenotypeQuality
all individuals: 43784
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 543
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2644
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 351
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 379
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1184
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60874
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10710
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9704
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6346
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8040
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.68359844940516e-5
allele num: 14962
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.604e0

DP
type: SiteQuality
SIO_000300: 1.264113e6

FS
type: SiteQuality
SIO_000300: 1.081e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: 1.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.23e-1

QD
type: SiteQuality
SIO_000300: 1.591e1

VQSLOD
type: SiteQuality
SIO_000300: -5.914e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-2

GenotypeQuality
all individuals: 49
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2606
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8619
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1267
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1267
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 43199
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 364
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8022
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60666
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.698821007502679e-5
allele num: 14928
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9674
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.898e1

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.46e-1

DP
type: SiteQuality
SIO_000300: 1.25878e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

GenotypeQuality
all individuals: 2622
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14058
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1197
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 138
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2728
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2118
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6174
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14236
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9378
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7584
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10040
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.73550850399167e-5
allele num: 57620
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.855e1

FS
type: SiteQuality
SIO_000300: 3.123e0

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

DP
type: SiteQuality
SIO_000300: 1.149624e6

QD
type: SiteQuality
SIO_000300: 8.65e0

VQSLOD
type: SiteQuality
SIO_000300: -9.984e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

GenotypeQuality
all individuals: 45
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2077
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1072
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1308
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17871
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1525
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25146
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 83
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 168
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13664
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7270
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9158
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6064
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.798043728423475e-5
allele num: 55616
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9580
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.23e1

FS
type: SiteQuality
SIO_000300: 2.124e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.694e0

DP
type: SiteQuality
SIO_000300: 1.05612e6

VQSLOD
type: SiteQuality
SIO_000300: 4.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e0

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

GenotypeQuality
all individuals: 269
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 784
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 705
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4657
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5452
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1377
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2684
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8994
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7086
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.840739240879137e-5
allele num: 54326
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5980
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13334
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.0e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.402e0

DP
type: SiteQuality
SIO_000300: 9.97498e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.072e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.5e-2

FS
type: SiteQuality
SIO_000300: 2.103e0

QD
type: SiteQuality
SIO_000300: 1.366e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 670
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2924
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4945
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20392
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19993
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1301
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53950
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.424501424501424e-4
allele num: 7020
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5956
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9254
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13228
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8968
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.725e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.39e-1

DP
type: SiteQuality
SIO_000300: 9.77113e5

VQSLOD
type: SiteQuality
SIO_000300: -4.124e-1

QD
type: SiteQuality
SIO_000300: 1.16e1

GenotypeQuality
all individuals: 719
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 950
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1267
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18701
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 4.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9214
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.728004771846108e-5
allele num: 53648
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8920
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5934
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6986
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

DP
type: SiteQuality
SIO_000300: 9.65517e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.189e0

VQSLOD
type: SiteQuality
SIO_000300: -4.972e2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-1

FS
type: SiteQuality
SIO_000300: 3.30767e2

QD
type: SiteQuality
SIO_000300: 1.08e0

GenotypeQuality
all individuals: 266
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7969
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1557
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21418
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1054
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1080
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 888
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5840
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8780
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12678
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.859364748562387e-5
allele num: 51822
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6712
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.148e0

VQSLOD
type: SiteQuality
SIO_000300: 7.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.29e-1

DP
type: SiteQuality
SIO_000300: 8.8979e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.308e1

GenotypeQuality
all individuals: 2762
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6321
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16822
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5910
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8953
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2335
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2023
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10938
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.181881654739047e-5
allele num: 45832
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8020
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 676
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5894
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.33e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.330000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-1

QD
type: SiteQuality
SIO_000300: 1.548e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.529e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.867e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.04855e5

GenotypeQuality
all individuals: 1692
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2815
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1037
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 976
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2919
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1549
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9576
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 357
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3650
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2395
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.569858712715855e-5
allele num: 63700
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14734
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11366
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.702512e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

VQSLOD
type: SiteQuality
SIO_000300: -3.911e-1

QD
type: SiteQuality
SIO_000300: 1.231e1

MQRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.871e1

GenotypeQuality
all individuals: 6439
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2410
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2583
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 787
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1710
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4344
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3696
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9591
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 23051
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.241807627488921e-5
allele num: 64084
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14902
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11386
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8400
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

VQSLOD
type: SiteQuality
SIO_000300: -6.326000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.720002e6

FS
type: SiteQuality
SIO_000300: 8.134e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-1

QD
type: SiteQuality
SIO_000300: 1.628e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

GenotypeQuality
all individuals: 1740
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3744
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2917
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2193
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 798
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9603
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4422
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2431
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6585
bin: 6.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15174
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.549714852467146e-5
allele num: 64528
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.738347e6

VQSLOD
type: SiteQuality
SIO_000300: 3.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e0

QD
type: SiteQuality
SIO_000300: 9.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.6e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

GenotypeQuality
all individuals: 258
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1732
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2979
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6743
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 60
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4484
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9625
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 25320
bin: 6.25e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9662
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65004
num of homozygotes: 0

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

East Asian
type: Population
allele count: 7
allele frequency: 8.217891523831885e-4
allele num: 8518
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.459948320413436e-5
allele num: 15480
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.511e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.44e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.755756e6

GenotypeQuality
all individuals: 115
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2453
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1765
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1648
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6750
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25412
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9623
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4489
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2977
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9674
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536853752996865e-5
allele num: 65068
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15530
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.865e1

QD
type: SiteQuality
SIO_000300: 6.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e0

FS
type: SiteQuality
SIO_000300: 7.77e0

DP
type: SiteQuality
SIO_000300: 1.759289e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.286e0

VQSLOD
type: SiteQuality
SIO_000300: -2.029e0

MQRankSum
type: SiteQuality
SIO_000300: -2.09e-1

GenotypeQuality
all individuals: 6812
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2458
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9789
bin: 9.75e1
variant carriers: 186

GenotypeQuality
all individuals: 4506
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1766
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3017
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 25924
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3805
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.530268715186387e-5
allele num: 65348
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15744
num of homozygotes: 0

African
type: Population
allele count: 185
allele frequency: 1.899383983572895e-2
allele num: 9740
num of homozygotes: 1

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

Latino
type: Population
allele count: 3
allele frequency: 2.617801047120419e-4
allele num: 11460
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.98e0

VQSLOD
type: SiteQuality
SIO_000300: 2.39e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
type: SiteQuality
SIO_000300: 2.94e-1

DP
type: SiteQuality
SIO_000300: 1.772627e6

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.168e1

GenotypeQuality
all individuals: 6907
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1782
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4550
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1051
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3058
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2483
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9732
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3850
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9774
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523229246001523e-5
allele num: 65650
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16012
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

VQSLOD
type: SiteQuality
SIO_000300: -2.496e0

DP
type: SiteQuality
SIO_000300: 1.781533e6

FS
type: SiteQuality
SIO_000300: 5.786e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQRankSum
type: SiteQuality
SIO_000300: 4.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.96e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.611e1

GenotypeQuality
all individuals: 26760
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3103
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6967
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 154
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1800
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2496
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4589
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9765
bin: 9.75e1
variant carriers: 22

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

South Asian
type: Population
allele count: 22
allele frequency: 1.349362119725221e-3
allele num: 16304
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: 9808
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65974
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.41e-1

DP
type: SiteQuality
SIO_000300: 1.791557e6

FS
type: SiteQuality
SIO_000300: 5.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.06e-1

QD
type: SiteQuality
SIO_000300: 1.077e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.16e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.614e0

GenotypeQuality
all individuals: 3110
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3903
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2505
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1808
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9769
bin: 9.75e1
variant carriers: 15

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

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7003
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26821
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4623
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

South Asian
type: Population
allele count: 15
allele frequency: 9.146341463414635e-4
allele num: 16400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66118
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.929999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.14e-1

QD
type: SiteQuality
SIO_000300: 1.22e1

MQ
type: SiteQuality
SIO_000300: 5.975e1

VQSLOD
type: SiteQuality
SIO_000300: 2.84e0

FS
type: SiteQuality
SIO_000300: 1.9e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e0

DP
type: SiteQuality
SIO_000300: 1.795022e6

GenotypeQuality
all individuals: 141
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2495
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26784
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3898
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4606
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3100
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6987
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1801
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.023157385573493e-5
allele num: 66156
num of homozygotes: 0

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

African
type: Population
allele count: 195
allele frequency: 1.984126984126984e-2
allele num: 9828
num of homozygotes: 3

Latino
type: Population
allele count: 8
allele frequency: 6.966213862765587e-4
allele num: 11484
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.218472036066772e-4
allele num: 16414
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

VQSLOD
type: SiteQuality
SIO_000300: 5.28e0

FS
type: SiteQuality
SIO_000300: 5.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.56e-2

MQ
type: SiteQuality
SIO_000300: 5.976e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.03e-1

DP
type: SiteQuality
SIO_000300: 1.804478e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.64e-1

QD
type: SiteQuality
SIO_000300: 1.264e1

GenotypeQuality
all individuals: 56
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4614
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 639
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26809
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9884
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3101
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1807
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6986
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3902
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.217878455730118e-4
allele num: 16422
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9818
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511395925276585e-5
allele num: 66164
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.97e-1

DP
type: SiteQuality
SIO_000300: 1.803025e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e0

FS
type: SiteQuality
SIO_000300: 1.531e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

MQRankSum
type: SiteQuality
SIO_000300: -3.93e-1

QD
type: SiteQuality
SIO_000300: 1.356e1

MQ
type: SiteQuality
SIO_000300: 5.952e1

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4617
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6995
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26783
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2502
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3901
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9884
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1805
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3103
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9814
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511167528032158e-5
allele num: 66174
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.95e-1

QD
type: SiteQuality
SIO_000300: 8.619999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.866e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.472e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.134e0

DP
type: SiteQuality
SIO_000300: 1.803252e6

GenotypeQuality
all individuals: 2503
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26700
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1808
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9881
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 657
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3105
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3901
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4623
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6998
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.02124183006536e-4
allele num: 9792
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66158
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.936e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

VQSLOD
type: SiteQuality
SIO_000300: 6.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -8.6e-1

DP
type: SiteQuality
SIO_000300: 1.802569e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.24e-1

FS
type: SiteQuality
SIO_000300: 3.0e0

QD
type: SiteQuality
SIO_000300: 9.029999999999999e0

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

GenotypeQuality
all individuals: 168
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3105
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 55
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3900
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 670
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7000
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26618
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4623
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1808
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9882
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2504
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66160
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.167133520074697e-4
allele num: 8568
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

MQRankSum
type: SiteQuality
SIO_000300: 3.29e-1

FS
type: SiteQuality
SIO_000300: 5.405e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.13e-1

QD
type: SiteQuality
SIO_000300: 1.541e1

DP
type: SiteQuality
SIO_000300: 1.802218e6

GenotypeQuality
all individuals: 3106
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1808
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26638
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3900
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2504
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9883
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4621
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7001
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511441613010489e-5
allele num: 66162
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.69e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
SIO_000300: 1.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.264e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.081e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

DP
type: SiteQuality
SIO_000300: 1.802224e6

GenotypeQuality
all individuals: 1808
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9884
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 81
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26661
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6999
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3902
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3105
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 77
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 675
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4622
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2504
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.167133520074697e-4
allele num: 8568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66164
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.144e0

QD
type: SiteQuality
SIO_000300: 1.302e1

DP
type: SiteQuality
SIO_000300: 1.802355e6

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

MQ
type: SiteQuality
SIO_000300: 6.007e1

MQRankSum
type: SiteQuality
SIO_000300: 8.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.612e0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6993
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 704
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3897
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2504
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1808
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26596
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9887
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3109
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4621
bin: 7.75e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66158
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.468e1

VQSLOD
type: SiteQuality
SIO_000300: -1.133e0

FS
type: SiteQuality
SIO_000300: 1.781e0

MQRankSum
type: SiteQuality
SIO_000300: -2.024e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.15e-1

DP
type: SiteQuality
SIO_000300: 1.801832e6

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

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

GenotypeQuality
all individuals: 3109
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2504
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26435
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 33
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3902
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1808
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6991
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4619
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9889
bin: 9.75e1
variant carriers: 2

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.023523009010099e-5
allele num: 66148
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.56e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

FS
type: SiteQuality
SIO_000300: 1.784e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.75e-1

QD
type: SiteQuality
SIO_000300: 1.378e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

DP
type: SiteQuality
SIO_000300: 1.801421e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.79e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

GenotypeQuality
all individuals: 1810
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2505
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 70
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3903
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3109
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9893
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 48
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26253
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4619
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6988
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66136
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.507131166705635e-4
allele num: 8554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.820000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.989e1

FS
type: SiteQuality
SIO_000300: 5.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.7e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

QD
type: SiteQuality
SIO_000300: 1.466e1

DP
type: SiteQuality
SIO_000300: 1.800665e6

GenotypeQuality
all individuals: 227
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3905
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9904
bin: 9.75e1
variant carriers: 11

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

GenotypeQuality
all individuals: 59
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6985
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26222
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2507
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3107
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1811
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4621
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9774
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66134
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 6.69833150651565e-4
allele num: 16422
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.65e0

FS
type: SiteQuality
SIO_000300: 5.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-2

DP
type: SiteQuality
SIO_000300: 1.800526e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e-1

QD
type: SiteQuality
SIO_000300: 1.483e1

GenotypeQuality
all individuals: 150
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1811
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3907
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4619
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6986
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26201
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 3.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 111
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9900
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 2508
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3105
bin: 7.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.024437454633438e-5
allele num: 66128
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9776
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.49e0

DP
type: SiteQuality
SIO_000300: 1.800346e6

MQ
type: SiteQuality
SIO_000300: 5.966e1

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

FS
type: SiteQuality
SIO_000300: 4.695e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.33e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.48e-1

GenotypeQuality
all individuals: 3111
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3912
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 280
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25787
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6984
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4616
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1808
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2506
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9902
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512813530604218e-5
allele num: 66102
num of homozygotes: 0

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: 6592
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9762
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

QD
type: SiteQuality
SIO_000300: 1.716e1

DP
type: SiteQuality
SIO_000300: 1.798813e6

MQRankSum
type: SiteQuality
SIO_000300: 5.28e-1

FS
type: SiteQuality
SIO_000300: 1.756e0

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.93e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

GenotypeQuality
all individuals: 353
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6755
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3857
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2479
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4526
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3056
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24112
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15954
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.624212736179146e-4
allele num: 11432
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65650
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.19e-1

DP
type: SiteQuality
SIO_000300: 1.833542e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

QD
type: SiteQuality
SIO_000300: 6.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 3857
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3056
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2479
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1787
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24112
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4526
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6755
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15954
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65650
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 9.263071222725401e-4
allele num: 9716
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.833542e6

VQSLOD
type: SiteQuality
SIO_000300: 4.74e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.38e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.19e-1

QD
type: SiteQuality
SIO_000300: 6.09e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.1e-2

GenotypeQuality
all individuals: 3056
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 386
bin: 7.5e0
variant carriers: 3

GenotypeQuality
all individuals: 165
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 9855
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 353
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 308
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 3857
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 358
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 376
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 162
bin: 1.75e1
variant carriers: 4

GenotypeQuality
all individuals: 4526
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6755
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2479
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 24112
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1787
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.177024482109228e-4
allele num: 8496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.253604111821487e-4
allele num: 15954
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.370906321401371e-4
allele num: 65650
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.1e-2

DP
type: SiteQuality
SIO_000300: 1.833542e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.38e-1

QD
type: SiteQuality
SIO_000300: 6.09e0

GenotypeQuality
all individuals: 235
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24841
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7084
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2565
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 36
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3997
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4677
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10133
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1863
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3198
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66090
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.172882946281961e-4
allele num: 8526
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.3464e1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.959e0

VQSLOD
type: SiteQuality
SIO_000300: -3.128e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

DP
type: SiteQuality
SIO_000300: 1.823612e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.631e0

QD
type: SiteQuality
SIO_000300: 1.636e1