9-100983199-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983199
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983199
    reference: chr 9
allele count: 2
allele frequency: 1.65604040738594e-5
allele num: 120770
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1290G>A
  hgvsp: ENST00000375064.1:c.1290G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.267+177G>A
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.636G>A
  hgvsp: ENST00000342112.5:c.636G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-16G>A
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1290G>A
  hgvsp: ENST00000375066.5:c.1290G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10185
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44853
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr430Thr
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

9-100983204-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983204
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983204
    reference: chr 9
allele count: 1
allele frequency: 8.276501357346223e-6
allele num: 120824
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1285T>C
  hgvsp: ENSP00000364207.5:p.Phe429Leu
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.267+172T>C
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1285T>C
  hgvsp: ENSP00000364205.1:p.Phe429Leu
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-21T>C
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.631T>C
  hgvsp: ENSP00000341567.5:p.Phe211Leu
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44884
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2239
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Phe429Leu
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

9-100983210-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983210
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983210
    reference: chr 9
allele count: 1
allele frequency: 8.272940865018697e-6
allele num: 120876
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1279C>G
  hgvsp: ENSP00000364205.1:p.Gln427Glu
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-27C>G
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1279C>G
  hgvsp: ENSP00000364207.5:p.Gln427Glu
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.625C>G
  hgvsp: ENSP00000341567.5:p.Gln209Glu
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.267+166C>G
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44919
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2242
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln427Glu
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP

9-100983215-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983215
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983215
    reference: chr 9
allele count: 177
allele frequency: 1.463729284509279e-3
allele num: 120924
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1274T>C
  hgvsp: ENSP00000364207.5:p.Val425Ala
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.267+161T>C
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-32T>C
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.620T>C
  hgvsp: ENSP00000341567.5:p.Val207Ala
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1274T>C
  hgvsp: ENSP00000364205.1:p.Val425Ala
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14547
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29491
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 12963
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44891
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1604
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val425Ala
num of homozygotes: 1
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

9-100983216-CCTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983216
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983213
    reference: chr 9
allele count: 1
allele frequency: 8.269383434771103e-6
allele num: 120928
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.616_618delAAG
  hgvsp: ENSP00000341567.5:p.Lys206del
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-36_369-34delAAG
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.267+157_267+159delAAG
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1270_1272delAAG
  hgvsp: ENSP00000364205.1:p.Lys424del
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1270_1272delAAG
  hgvsp: ENSP00000364207.5:p.Lys424del
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45016
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys424del
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: CCTT
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/9-100983222-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983222
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983223
    reference: chr 9
allele count: 6
allele frequency: 4.96007142502852e-5
allele num: 120966
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.612dupT
  hgvsp: ENSP00000341567.5:p.Glu205Ter
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1266dupT
  hgvsp: ENSP00000364205.1:p.Glu423Ter
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-40dupT
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1266dupT
  hgvsp: ENSP00000364207.5:p.Glu423Ter
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.267+153dupT
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12998
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10203
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu423Ter
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD

9-100983226-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983226
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983226
    reference: chr 9
allele count: 4
allele frequency: 3.305894409732553e-5
allele num: 120996
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.609C>G
  hgvsp: ENST00000342112.5:c.609C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1263C>G
  hgvsp: ENST00000375064.1:c.1263C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.267+150C>G
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1263C>G
  hgvsp: ENST00000375066.5:c.1263C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-43C>G
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13016
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14588
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2238
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10204
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45051
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu421Leu
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum

9-100983229-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983229
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983229
    reference: chr 9
allele count: 198
allele frequency: 1.636174326937379e-3
allele num: 121014
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1260G>A
  hgvsp: ENST00000375066.5:c.1260G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1260G>A
  hgvsp: ENST00000375064.1:c.1260G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-46G>A
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.267+147G>A
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.606G>A
  hgvsp: ENST00000342112.5:c.606G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12983
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29569
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45012
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2231
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10190
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1598
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys420Lys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

9-100983249-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983249
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983249
    reference: chr 9
allele count: 2
allele frequency: 1.652264428399121e-5
allele num: 121046
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.267+127A>G
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1240A>G
  hgvsp: ENSP00000364205.1:p.Lys414Glu
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.586A>G
  hgvsp: ENSP00000341567.5:p.Lys196Glu
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1240A>G
  hgvsp: ENSP00000364207.5:p.Lys414Glu
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-66A>G
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14618
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1612
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10223
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys414Glu
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum

9-100983251-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983251
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983251
    reference: chr 9
allele count: 3
allele frequency: 2.478765244406253e-5
allele num: 121028
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1238C>T
  hgvsp: ENSP00000364207.5:p.Ala413Val
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.267+125C>T
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1238C>T
  hgvsp: ENSP00000364205.1:p.Ala413Val
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-68C>T
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.584C>T
  hgvsp: ENSP00000341567.5:p.Ala195Val
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.5e0
  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: 12962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10230
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2224
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45110
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala413Val
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

9-100983261-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983261
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983261
    reference: chr 9
allele count: 1
allele frequency: 8.263779852904718e-6
allele num: 121010
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.574A>G
  hgvsp: ENSP00000341567.5:p.Lys192Glu
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1228A>G
  hgvsp: ENSP00000364207.5:p.Lys410Glu
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1228A>G
  hgvsp: ENSP00000364205.1:p.Lys410Glu
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-78A>G
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.267+115A>G
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29674
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45060
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2221
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys410Glu
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

9-100983264-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983264
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983264
    reference: chr 9
allele count: 8
allele frequency: 6.612772570219378e-5
allele num: 120978
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1225G>A
  hgvsp: ENSP00000364205.1:p.Asp409Asn
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.267+112G>A
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1225G>A
  hgvsp: ENSP00000364207.5:p.Asp409Asn
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.571G>A
  hgvsp: ENSP00000341567.5:p.Asp191Asn
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-81G>A
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12881
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29660
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2218
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45021
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp409Asn
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/9-100983278-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983278
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983278
    reference: chr 9
allele count: 1
allele frequency: 8.276501357346223e-6
allele num: 120824
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.267+98T>G
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-95T>G
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1211T>G
  hgvsp: ENSP00000364207.5:p.Val404Gly
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1211T>G
  hgvsp: ENSP00000364205.1:p.Val404Gly
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.557T>G
  hgvsp: ENSP00000341567.5:p.Val186Gly
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29592
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10174
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val404Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum

9-100983279-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983279
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983279
    reference: chr 9
allele count: 1
allele frequency: 8.278282753025713e-6
allele num: 120798
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.267+97G>A
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1210G>A
  hgvsp: ENSP00000364207.5:p.Val404Met
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-96G>A
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1210G>A
  hgvsp: ENSP00000364205.1:p.Val404Met
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.556G>A
  hgvsp: ENSP00000341567.5:p.Val186Met
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44761
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1604
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10176
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val404Met
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

9-100983280-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983280
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983280
    reference: chr 9
allele count: 2
allele frequency: 1.655958137378287e-5
allele num: 120776
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1209C>T
  hgvsp: ENST00000375064.1:c.1209C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.555C>T
  hgvsp: ENST00000342112.5:c.555C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1209C>T
  hgvsp: ENST00000375066.5:c.1209C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-97C>T
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.267+96C>T
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2196
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44743
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10174
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
hgvs: p.His403His
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

9-100983280-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983280
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983280
    reference: chr 9
allele count: 1
allele frequency: 8.279790686891435e-6
allele num: 120776
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-97C>A
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.267+96C>A
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1209C>A
  hgvsp: ENSP00000364205.1:p.His403Gln
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1209C>A
  hgvsp: ENSP00000364207.5:p.His403Gln
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.555C>A
  hgvsp: ENSP00000341567.5:p.His185Gln
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  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: 7
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44743
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2196
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10174
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 7.75e1
  variant carriers: 0
hgvs: p.His403Gln
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

9-100983301-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983301
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983301
    reference: chr 9
allele count: 1
allele frequency: 8.347942232239753e-6
allele num: 119790
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.534G>C
  hgvsp: ENSP00000341567.5:p.Gln178His
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-118G>C
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1188G>C
  hgvsp: ENSP00000364205.1:p.Gln396His
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1188G>C
  hgvsp: ENSP00000364207.5:p.Gln396His
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.267+75G>C
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11955
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2132
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1574
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln396His
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

9-100983302-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983302
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983302
    reference: chr 9
allele count: 1
allele frequency: 8.348360382020972e-6
allele num: 119784
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1187A>C
  hgvsp: ENSP00000364205.1:p.Gln396Pro
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.267+74A>C
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1187A>C
  hgvsp: ENSP00000364207.5:p.Gln396Pro
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-119A>C
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.533A>C
  hgvsp: ENSP00000341567.5:p.Gln178Pro
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1585
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2129
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43546
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9892
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln396Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

9-100983303-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983303
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983303
    reference: chr 9
allele count: 2
allele frequency: 1.672296732332185e-5
allele num: 119596
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1186C>A
  hgvsp: ENSP00000364207.5:p.Gln396Lys
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-120C>A
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.532C>A
  hgvsp: ENSP00000341567.5:p.Gln178Lys
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1186C>A
  hgvsp: ENSP00000364205.1:p.Gln396Lys
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.267+73C>A
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14307
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1814
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2122
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9840
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln396Lys
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ

9-100983307-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983307
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983307
    reference: chr 9
allele count: 1
allele frequency: 8.432983083435934e-6
allele num: 118582
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-124G>A
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.528G>A
  hgvsp: ENST00000342112.5:c.528G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1182G>A
  hgvsp: ENST00000375066.5:c.1182G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1182G>A
  hgvsp: ENST00000375064.1:c.1182G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.267+69G>A
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1878
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3194
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9056
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu394Glu
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/9-100983311-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983311
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983311
    reference: chr 9
allele count: 5
allele frequency: 4.229903727391165e-5
allele num: 118206
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.267+65G>T
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1178G>T
  hgvsp: ENSP00000364205.1:p.Arg393Leu
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1178G>T
  hgvsp: ENSP00000364207.5:p.Arg393Leu
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.524G>T
  hgvsp: ENSP00000341567.5:p.Arg175Leu
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-128G>T
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11496
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13376
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3729
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8917
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1840
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41574
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg393Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

9-100983323-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983323
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983323
    reference: chr 9
allele count: 1
allele frequency: 8.71171202564728e-6
allele num: 114788
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.267+53C>T
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-140C>T
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1166C>T
  hgvsp: ENSP00000364205.1:p.Thr389Ile
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.512C>T
  hgvsp: ENSP00000341567.5:p.Thr171Ile
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1166C>T
  hgvsp: ENSP00000364207.5:p.Thr389Ile
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9036
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23206
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1859
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1499
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34403
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr389Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

9-100983327-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983327
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983327
    reference: chr 9
allele count: 2
allele frequency: 1.758798388940676e-5
allele num: 113714
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1162C>T
  hgvsp: ENSP00000364205.1:p.His388Tyr
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.508C>T
  hgvsp: ENSP00000341567.5:p.His170Tyr
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.267+49C>T
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1162C>T
  hgvsp: ENSP00000364207.5:p.His388Tyr
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-144C>T
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21354
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8945
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10974
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6823
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12108
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31529
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His388Tyr
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

9-100983329-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983329
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983329
    reference: chr 9
allele count: 591
allele frequency: 5.251186181650169e-3
allele num: 112546
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.267+47C>T
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1160C>T
  hgvsp: ENSP00000364205.1:p.Ala387Val
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.506C>T
  hgvsp: ENSP00000341567.5:p.Ala169Val
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-146C>T
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1160C>T
  hgvsp: ENSP00000364207.5:p.Ala387Val
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19943
  bin: 2.75e1
  variant carriers: 107
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 3.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 8352
  bin: 3.25e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3807
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 12442
  bin: 1.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 10154
  bin: 2.25e1
  variant carriers: 112
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 1.75e1
  variant carriers: 72
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 7.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 13589
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2201
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 8.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 6414
  bin: 6.75e1
  variant carriers: 2
hgvs: p.Ala387Val
num of homozygotes: 22
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

9-100983334-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983334
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983334
    reference: chr 9
allele count: 3
allele frequency: 2.747454025935966e-5
allele num: 109192
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.501C>T
  hgvsp: ENST00000342112.5:c.501C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1155C>T
  hgvsp: ENST00000375064.1:c.1155C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-151C>T
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1155C>T
  hgvsp: ENST00000375066.5:c.1155C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.267+42C>T
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16891
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6896
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14759
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4235
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21978
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1371
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser385Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

9-100983335-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983335
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983335
    reference: chr 9
allele count: 1
allele frequency: 9.159018885896942e-6
allele num: 109182
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-152G>C
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1154G>C
  hgvsp: ENSP00000364207.5:p.Ser385Thr
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.267+41G>C
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1154G>C
  hgvsp: ENSP00000364205.1:p.Ser385Thr
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.500G>C
  hgvsp: ENSP00000341567.5:p.Ser167Thr
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6857
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14775
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16934
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5658
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18918
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22354
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4244
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3558
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4382
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser385Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/9-100983341-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983341
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983341
    reference: chr 9
allele count: 1
allele frequency: 9.47867298578199e-6
allele num: 105500
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-158G>T
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.494G>T
  hgvsp: ENSP00000341567.5:p.Arg165Leu
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1148G>T
  hgvsp: ENSP00000364207.5:p.Arg383Leu
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1148G>T
  hgvsp: ENSP00000364205.1:p.Arg383Leu
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.267+35G>T
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8822
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18454
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9406
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6458
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4452
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18203
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1428
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5066
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg383Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

9-100983353-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983353
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983352
    reference: chr 9
allele count: 1
allele frequency: 1.06988488038687e-5
allele num: 93468
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1135delC
  hgvsp: ENSP00000364207.5:p.Leu379TrpfsTer70
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.481delC
  hgvsp: ENSP00000341567.5:p.Leu161TrpfsTer70
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.267+22delC
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1135delC
  hgvsp: ENSP00000364205.1:p.Leu379TrpfsTer70
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-171delC
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10573
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18807
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6892
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2660
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4146
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22738
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2142
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5534
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu379TrpfsTer70
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: AG
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum

9-100983356-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983356
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983356
    reference: chr 9
allele count: 1
allele frequency: 1.358511071865236e-5
allele num: 73610
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-173C>T
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.479C>T
  hgvsp: ENSP00000341567.5:p.Ala160Val
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1133C>T
  hgvsp: ENSP00000364205.1:p.Ala378Val
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1133C>T
  hgvsp: ENSP00000364207.5:p.Ala378Val
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.267+20C>T
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18500
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10394
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13740
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2903
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6117
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17721
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3404
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4485
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6034
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1210
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1481
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala378Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

9-100983357-CCTCCACCCG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983357
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983348
    reference: chr 9
allele count: 1
allele frequency: 1.319191599387895e-5
allele num: 75804
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsp: ENSP00000364205.1:p.Arg375_Glu377del
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsp: ENSP00000364207.5:p.Arg375_Glu377del
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.469_477delCGGGTGGAG
  hgvsp: ENSP00000341567.5:p.Arg157_Glu159del
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13857
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18524
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18708
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7447
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5293
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6160
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3265
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4593
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1218
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg375_Glu377del
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: CCTCCACCCG
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

9-100983359-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983359
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983359
    reference: chr 9
allele count: 8
allele frequency: 1.11569786901707e-4
allele num: 71704
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.267+17A>G
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-176A>G
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1130A>G
  hgvsp: ENSP00000364205.1:p.Glu377Gly
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1130A>G
  hgvsp: ENSP00000364207.5:p.Glu377Gly
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.476A>G
  hgvsp: ENSP00000341567.5:p.Glu159Gly
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10147
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18529
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13983
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2806
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6237
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17793
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4085
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5215
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2904
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3535
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4246
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu377Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

9-100983360-CCACCCGCCGGCCCAGCTCCGCGATCTGCCG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983360
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983330
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 78928
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsp: ENSP00000364207.5:p.Arg367_Val376del
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsp: ENSP00000364205.1:p.Arg367_Val376del
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsp: ENSP00000341567.5:p.Arg149_Val158del
  variant of: http://identifiers.org/hgnc/18026
canonical: false
consequence: splice donor
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13969
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18539
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3091
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6127
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20210
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3696
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3095
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4859
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: CCACCCGCCGGCCCAGCTCCGCGATCTGCCG
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/9-100983362-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983362
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983362
    reference: chr 9
allele count: 294
allele frequency: 6.373569198751301e-3
allele num: 46128
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.267+14T>G
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1127T>G
  hgvsp: ENSP00000364207.5:p.Val376Gly
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1127T>G
  hgvsp: ENSP00000364205.1:p.Val376Gly
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-179T>G
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.473T>G
  hgvsp: ENSP00000341567.5:p.Val158Gly
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9237
  bin: 1.75e1
  variant carriers: 119
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15647
  bin: 7.5e0
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 7558
  bin: 2.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 4195
  bin: 2.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 19128
  bin: 1.25e1
  variant carriers: 120
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4551
  bin: 1.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 4.25e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 1022
  bin: 4.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 3.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 13469
  bin: 2.25e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 6637
  bin: 7.5e0
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 2363
  bin: 2.75e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 8.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 5705
  bin: 1.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 14049
  bin: 2.5e0
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.25e1
  variant carriers: 15
hgvs: p.Val376Gly
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

9-100983366-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983366
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983366
    reference: chr 9
allele count: 1
allele frequency: 1.243502698400856e-5
allele num: 80418
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1123C>T
  hgvsp: ENSP00000364207.5:p.Arg375Trp
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.267+10C>T
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.469C>T
  hgvsp: ENSP00000341567.5:p.Arg157Trp
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-183C>T
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1123C>T
  hgvsp: ENSP00000364205.1:p.Arg375Trp
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16941
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17078
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2788
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28492
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1957
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1433
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3020
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg375Trp
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

9-100983366-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983366
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983366
    reference: chr 9
allele count: 1
allele frequency: 1.243502698400856e-5
allele num: 80418
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.469C>A
  hgvsp: ENST00000342112.5:c.469C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1123C>A
  hgvsp: ENST00000375066.5:c.1123C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-183C>A
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1123C>A
  hgvsp: ENST00000375064.1:c.1123C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.267+10C>A
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16941
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17078
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9655
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28492
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3020
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1433
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2682
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14557
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1957
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2788
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg375Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

9-100983369-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983369
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983369
    reference: chr 9
allele count: 1
allele frequency: 1.254358897167658e-5
allele num: 79722
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1120C>G
  hgvsp: ENSP00000364205.1:p.Arg374Gly
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-186C>G
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.267+7C>G
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.466C>G
  hgvsp: ENSP00000341567.5:p.Arg156Gly
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1120C>G
  hgvsp: ENSP00000364207.5:p.Arg374Gly
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10447
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17551
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16818
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2646
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2132
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29743
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2281
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17169
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2735
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg374Gly
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum

9-100983370-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983370
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983370
    reference: chr 9
allele count: 1
allele frequency: 1.318808851845014e-5
allele num: 75826
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.267+6C>T
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-187C>T
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.465C>T
  hgvsp: ENST00000342112.5:c.465C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1119C>T
  hgvsp: ENST00000375064.1:c.1119C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1119C>T
  hgvsp: ENST00000375066.5:c.1119C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8443
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18646
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18046
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2464
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1588
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30931
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3240
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2903
  bin: 2.75e1
  variant carriers: 0
hgvs: n.267+6C>T
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

9-100983371-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983371
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983371
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 76200
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.267+5G>C
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1118G>C
  hgvsp: ENSP00000364205.1:p.Gly373Ala
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-188G>C
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.464G>C
  hgvsp: ENSP00000341567.5:p.Gly155Ala
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1118G>C
  hgvsp: ENSP00000364207.5:p.Gly373Ala
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17989
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8510
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18809
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3206
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31469
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2890
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13876
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1597
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly373Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/9-100983372-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983372
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983372
    reference: chr 9
allele count: 2
allele frequency: 2.621369403376324e-5
allele num: 76296
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1117G>T
  hgvsp: ENSP00000364207.5:p.Gly373Cys
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1117G>T
  hgvsp: ENSP00000364205.1:p.Gly373Cys
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-189G>T
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.267+4G>T
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.463G>T
  hgvsp: ENSP00000341567.5:p.Gly155Cys
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17992
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18888
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14314
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31731
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3204
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1598
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2386
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly373Cys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

9-100983378-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983378
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983378
    reference: chr 9
allele count: 1
allele frequency: 1.474621759518683e-5
allele num: 67814
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-195G>C
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.265G>C
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.457G>C
  hgvsp: ENSP00000341567.5:p.Glu153Gln
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1111G>C
  hgvsp: ENSP00000364205.1:p.Glu371Gln
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1111G>C
  hgvsp: ENSP00000364207.5:p.Glu371Gln
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4084
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18396
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21085
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1158
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31944
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2382
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9482
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4700
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2544
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu371Gln
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

9-100983379-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983379
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983379
    reference: chr 9
allele count: 7
allele frequency: 1.033515428908903e-4
allele num: 67730
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.456G>A
  hgvsp: ENST00000342112.5:c.456G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-196G>A
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1110G>A
  hgvsp: ENST00000375064.1:c.1110G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.264G>A
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1110G>A
  hgvsp: ENST00000375066.5:c.1110G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4099
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18283
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5182
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2515
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2854
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4711
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32259
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala370Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

9-100983380-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983380
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983380
    reference: chr 9
allele count: 2
allele frequency: 2.9707970648525e-5
allele num: 67322
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1109C>T
  hgvsp: ENSP00000364207.5:p.Ala370Val
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-197C>T
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.263C>T
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1109C>T
  hgvsp: ENSP00000364205.1:p.Ala370Val
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.455C>T
  hgvsp: ENSP00000341567.5:p.Ala152Val
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21451
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18175
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2788
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4783
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32571
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2434
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1859
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala370Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

9-100983381-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983381
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983381
    reference: chr 9
allele count: 4
allele frequency: 5.931725835631877e-5
allele num: 67434
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1108G>A
  hgvsp: ENSP00000364207.5:p.Ala370Thr
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1108G>A
  hgvsp: ENSP00000364205.1:p.Ala370Thr
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.454G>A
  hgvsp: ENSP00000341567.5:p.Ala152Thr
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-198G>A
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.262G>A
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7018
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18132
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21621
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2775
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2417
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4787
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32968
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala370Thr
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

9-100983382-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983382
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983382
    reference: chr 9
allele count: 2
allele frequency: 2.98569850416505e-5
allele num: 66986
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1107C>T
  hgvsp: ENST00000375066.5:c.1107C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-199C>T
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.453C>T
  hgvsp: ENST00000342112.5:c.453C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.261C>T
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1107C>T
  hgvsp: ENST00000375064.1:c.1107C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18111
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21780
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10650
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2703
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33277
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile369Ile
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/9-100983388-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983388
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983388
    reference: chr 9
allele count: 1
allele frequency: 1.595659805329504e-5
allele num: 62670
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.255G>T
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-205G>T
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1101G>T
  hgvsp: ENST00000375064.1:c.1101G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.447G>T
  hgvsp: ENST00000342112.5:c.447G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1101G>T
  hgvsp: ENST00000375066.5:c.1101G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17673
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2610
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9559
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33930
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2268
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg367Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

9-100983390-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983390
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983390
    reference: chr 9
allele count: 2
allele frequency: 3.363605785401951e-5
allele num: 59460
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.253C>T
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1099C>T
  hgvsp: ENSP00000364205.1:p.Arg367Trp
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1099C>T
  hgvsp: ENSP00000364207.5:p.Arg367Trp
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-207C>T
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.445C>T
  hgvsp: ENSP00000341567.5:p.Arg149Trp
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23682
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5747
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17489
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33311
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2542
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6609
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2180
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg367Trp
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD

9-100983390-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983390
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983390
    reference: chr 9
allele count: 1
allele frequency: 1.681802892700975e-5
allele num: 59460
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1099C>A
  hgvsp: ENST00000375064.1:c.1099C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.253C>A
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-207C>A
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.445C>A
  hgvsp: ENST00000342112.5:c.445C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1099C>A
  hgvsp: ENST00000375066.5:c.1099C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17489
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5747
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23682
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2180
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33311
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6609
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2026
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg367Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/9-100983400-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983400
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983400
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 51824
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1089G>T
  hgvsp: ENST00000375064.1:c.1089G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.243G>T
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1089G>T
  hgvsp: ENST00000375066.5:c.1089G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.435G>T
  hgvsp: ENST00000342112.5:c.435G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-217G>T
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: synonymous
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25469
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3188
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15959
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7659
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2288
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32528
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8932
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1792
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2119
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7088
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Arg363Arg
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

9-100983400-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983400
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983400
    reference: chr 9
allele count: 1
allele frequency: 1.929607903673973e-5
allele num: 51824
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.435G>A
  hgvsp: ENST00000342112.5:c.435G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1089G>A
  hgvsp: ENST00000375064.1:c.1089G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1089G>A
  hgvsp: ENST00000375066.5:c.1089G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.243G>A
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-217G>A
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15959
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3188
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25469
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7659
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2119
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7088
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1792
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32528
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg363Arg
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

9-100983401-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983401
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983401
    reference: chr 9
allele count: 1
allele frequency: 1.979570829044263e-5
allele num: 50516
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1088G>A
  hgvsp: ENSP00000364207.5:p.Arg363Gln
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.242G>A
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-218G>A
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1088G>A
  hgvsp: ENSP00000364205.1:p.Arg363Gln
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.434G>A
  hgvsp: ENSP00000341567.5:p.Arg145Gln
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25853
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15534
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31730
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1920
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1911
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9421
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2269
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2770
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6779
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg363Gln
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

9-100983402-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983402
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983402
    reference: chr 9
allele count: 3
allele frequency: 6.088897909478384e-5
allele num: 49270
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1087C>T
  hgvsp: ENSP00000364205.1:p.Arg363Trp
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1087C>T
  hgvsp: ENSP00000364207.5:p.Arg363Trp
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-219C>T
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.241C>T
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.433C>T
  hgvsp: ENSP00000341567.5:p.Arg145Trp
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15480
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25925
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8217
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2441
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31973
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9574
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1990
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2129
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6851
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg363Trp
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

9-100983410-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983410
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983410
    reference: chr 9
allele count: 1
allele frequency: 2.454469589121791e-5
allele num: 40742
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1079A>G
  hgvsp: ENSP00000364207.5:p.Glu360Gly
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-227A>G
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.425A>G
  hgvsp: ENSP00000341567.5:p.Glu142Gly
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1079A>G
  hgvsp: ENSP00000364205.1:p.Glu360Gly
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.233A>G
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13193
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27288
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10493
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11438
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28404
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1806
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5931
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4702
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2469
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu360Gly
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

9-100983416-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983416
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983416
    reference: chr 9
allele count: 4
allele frequency: 1.005075631941304e-4
allele num: 39798
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1073G>A
  hgvsp: ENSP00000364207.5:p.Arg358Gln
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1073G>A
  hgvsp: ENSP00000364205.1:p.Arg358Gln
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-233G>A
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.419G>A
  hgvsp: ENSP00000341567.5:p.Arg140Gln
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.227G>A
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11960
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27930
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11695
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 1560
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2688
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1904
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12374
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6289
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  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 6
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genotype quality: GenotypeQuality
  all individuals: 91
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genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg358Gln
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum

9-100983417-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983417
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983417
    reference: chr 9
allele count: 1
allele frequency: 2.542846971469257e-5
allele num: 39326
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-234C>G
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1072C>G
  hgvsp: ENSP00000364207.5:p.Arg358Gly
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1072C>G
  hgvsp: ENSP00000364205.1:p.Arg358Gly
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.418C>G
  hgvsp: ENSP00000341567.5:p.Arg140Gly
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.226C>G
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11684
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4040
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11860
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 4
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 12372
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg358Gly
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

9-100983420-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983420
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983420
    reference: chr 9
allele count: 1
allele frequency: 2.596593269630245e-5
allele num: 38512
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-237G>A
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.223G>A
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1069G>A
  hgvsp: ENSP00000364205.1:p.Asp357Asn
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1069G>A
  hgvsp: ENSP00000364207.5:p.Asp357Asn
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.415G>A
  hgvsp: ENSP00000341567.5:p.Asp139Asn
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28046
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12460
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6331
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 13119
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
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genotype quality: GenotypeQuality
  all individuals: 32219
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2045
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1843
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp357Asn
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/9-100983430-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983430
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983430
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 31092
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.213T>G
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1059T>G
  hgvsp: ENST00000375064.1:c.1059T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-247T>G
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.405T>G
  hgvsp: ENST00000342112.5:c.405T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1059T>G
  hgvsp: ENST00000375066.5:c.1059T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 27085
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16508
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8812
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25196
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2702
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16962
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4769
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Ala353Ala
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: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS

9-100983436-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983436
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983436
    reference: chr 9
allele count: 1
allele frequency: 3.441629955947137e-5
allele num: 29056
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1053G>A
  hgvsp: ENST00000375066.5:c.1053G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.399G>A
  hgvsp: ENST00000342112.5:c.399G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.207G>A
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-253G>A
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1053G>A
  hgvsp: ENST00000375064.1:c.1053G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17885
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26962
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7813
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5556
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2604
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26108
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18432
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala351Ala
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD

9-100983445-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983445
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983445
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 24598
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-262A>G
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1044A>G
  hgvsp: ENST00000375066.5:c.1044A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.198A>G
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1044A>G
  hgvsp: ENST00000375064.1:c.1044A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.390A>G
  hgvsp: ENST00000342112.5:c.390A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21241
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25515
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21556
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22316
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4913
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3169
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala348Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/9-100983447-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983447
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983447
    reference: chr 9
allele count: 1
allele frequency: 4.389430251953297e-5
allele num: 22782
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1042G>T
  hgvsp: ENSP00000364205.1:p.Ala348Ser
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.196G>T
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.388G>T
  hgvsp: ENSP00000341567.5:p.Ala130Ser
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1042G>T
  hgvsp: ENSP00000364207.5:p.Ala348Ser
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-264G>T
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22017
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5891
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25254
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4482
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22094
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20432
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4524
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3418
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala348Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

9-100983448-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983448
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983448
    reference: chr 9
allele count: 3
allele frequency: 1.316135825217162e-4
allele num: 22794
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1041C>T
  hgvsp: ENST00000375064.1:c.1041C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.387C>T
  hgvsp: ENST00000342112.5:c.387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.195C>T
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1041C>T
  hgvsp: ENST00000375066.5:c.1041C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-265C>T
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5783
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3866
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3359
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22237
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21194
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser347Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

9-100983455-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983455
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983455
    reference: chr 9
allele count: 3
allele frequency: 1.535626535626536e-4
allele num: 19536
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.188C>G
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1034C>G
  hgvsp: ENSP00000364205.1:p.Ala345Gly
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1034C>G
  hgvsp: ENSP00000364207.5:p.Ala345Gly
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-272C>G
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.380C>G
  hgvsp: ENSP00000341567.5:p.Ala127Gly
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23896
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4801
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2706
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24950
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3582
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4303
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1774
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23563
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19382
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3853
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala345Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

9-100983455-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983455
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983455
    reference: chr 9
allele count: 3
allele frequency: 1.535626535626536e-4
allele num: 19536
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.380C>T
  hgvsp: ENSP00000341567.5:p.Ala127Val
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1034C>T
  hgvsp: ENSP00000364207.5:p.Ala345Val
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1034C>T
  hgvsp: ENSP00000364205.1:p.Ala345Val
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.188C>T
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-272C>T
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4801
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23896
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2706
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24950
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23563
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3853
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1774
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3582
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19382
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4303
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala345Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/9-100983458-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983458
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983458
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 18804
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1031G>T
  hgvsp: ENSP00000364207.5:p.Arg344Leu
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1031G>T
  hgvsp: ENSP00000364205.1:p.Arg344Leu
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.377G>T
  hgvsp: ENSP00000341567.5:p.Arg126Leu
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.185G>T
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-275G>T
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24500
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24693
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4572
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24096
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3514
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1696
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg344Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/9-100983474-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983474
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983474
    reference: chr 9
allele count: 1
allele frequency: 6.846501437765302e-5
allele num: 14606
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1015G>T
  hgvsp: ENSP00000364205.1:p.Ala339Ser
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.169G>T
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-291G>T
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1015G>T
  hgvsp: ENSP00000364207.5:p.Ala339Ser
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.361G>T
  hgvsp: ENSP00000341567.5:p.Ala121Ser
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26670
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4128
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4006
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2022
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25654
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3385
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2206
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala339Ser
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

9-100983475-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983475
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983475
    reference: chr 9
allele count: 2
allele frequency: 1.392757660167131e-4
allele num: 14360
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1014C>T
  hgvsp: ENST00000375066.5:c.1014C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.168C>T
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1014C>T
  hgvsp: ENST00000375064.1:c.1014C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.360C>T
  hgvsp: ENST00000342112.5:c.360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-292C>T
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26840
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4097
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24200
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1809
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18896
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4159
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.75e1
  variant carriers: 1
hgvs: p.Ala338Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

9-100983476-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983476
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983475
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 13856
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-294delG
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.166delG
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.358delG
  hgvsp: ENSP00000341567.5:p.Ala120ProfsTer111
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1012delG
  hgvsp: ENSP00000364205.1:p.Ala338ProfsTer111
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1012delG
  hgvsp: ENSP00000364207.5:p.Ala338ProfsTer111
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24087
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26988
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17946
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2277
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3348
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4853
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1866
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala338ProfsTer111
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: GC
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

9-100983480-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983480
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983480
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 13798
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.163G>A
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1009G>A
  hgvsp: ENSP00000364207.5:p.Glu337Lys
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-297G>A
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1009G>A
  hgvsp: ENSP00000364205.1:p.Glu337Lys
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.355G>A
  hgvsp: ENSP00000341567.5:p.Glu119Lys
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 26968
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24486
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1417
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3370
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26125
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2947
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20510
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu337Lys
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

9-100983483-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983483
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983483
    reference: chr 9
allele count: 54
allele frequency: 4.051620648259304e-3
allele num: 13328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.1006C>T
  hgvsp: ENST00000375064.1:c.1006C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.160C>T
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.352C>T
  hgvsp: ENST00000342112.5:c.352C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-300C>T
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.1006C>T
  hgvsp: ENST00000375066.5:c.1006C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24398
  bin: 7.5e0
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 27219
  bin: 2.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3955
  bin: 1.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1446
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 2.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20211
  bin: 2.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1767
  bin: 6.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3760
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2797
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26215
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 6.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 3.25e1
  variant carriers: 2
hgvs: p.Leu336Leu
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD

9-100983490-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983490
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983490
    reference: chr 9
allele count: 1
allele frequency: 7.975753708725475e-5
allele num: 12538
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.153C>T
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-307C>T
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.345C>T
  hgvsp: ENST00000342112.5:c.345C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.999C>T
  hgvsp: ENST00000375066.5:c.999C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.999C>T
  hgvsp: ENST00000375064.1:c.999C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24650
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27434
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3879
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2320
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22009
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2844
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26633
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
hgvs: p.His333His
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

9-100983493-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983493
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983493
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 11854
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.996G>A
  hgvsp: ENST00000375064.1:c.996G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.150G>A
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.996G>A
  hgvsp: ENST00000375066.5:c.996G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.342G>A
  hgvsp: ENST00000342112.5:c.342G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-310G>A
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27730
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24502
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2182
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21842
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26858
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu332Leu
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

9-100983494-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983494
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983494
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 11984
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-311T>C
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.341T>C
  hgvsp: ENSP00000341567.5:p.Leu114Pro
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.995T>C
  hgvsp: ENSP00000364207.5:p.Leu332Pro
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.149T>C
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.995T>C
  hgvsp: ENSP00000364205.1:p.Leu332Pro
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3829
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27649
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24703
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2431
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22711
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2056
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26904
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Leu332Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS

9-100983495-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983495
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983495
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 11860
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.994C>T
  hgvsp: ENST00000375066.5:c.994C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.994C>T
  hgvsp: ENST00000375064.1:c.994C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-312C>T
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.340C>T
  hgvsp: ENST00000342112.5:c.340C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.148C>T
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3833
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27659
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24701
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2316
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22846
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26945
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu332Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum

9-100983512-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983512
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983512
    reference: chr 9
allele count: 1
allele frequency: 1.058649163667161e-4
allele num: 9446
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.979-2A>G
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.133-2A>G
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.325-2A>G
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.979-2A>G
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-329A>G
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: splice acceptor
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22464
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30514
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29764
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19762
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2695
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
hgvs: c.979-2A>G
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

9-100983513-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100983513
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 100983513
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 9286
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364207
  ensembl transcript: ENST00000375066
  gene symbol: TBC1D2
  hgvsc: ENST00000375066.5:c.979-3C>T
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000465784
  gene symbol: TBC1D2
  hgvsc: ENST00000465784.2:n.369-330C>T
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000364205
  ensembl transcript: ENST00000375064
  gene symbol: TBC1D2
  hgvsc: ENST00000375064.1:c.979-3C>T
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl protein: ENSP00000341567
  ensembl transcript: ENST00000342112
  gene symbol: TBC1D2
  hgvsc: ENST00000342112.5:c.325-3C>T
  variant of: http://identifiers.org/hgnc/18026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095383
  ensembl transcript: ENST00000493589
  gene symbol: TBC1D2
  hgvsc: ENST00000493589.2:n.133-3C>T
  variant of: http://identifiers.org/hgnc/18026
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30652
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22324
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29965
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1977
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2627
  bin: 1.75e1
  variant carriers: 0
hgvs: c.979-3C>T
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1623
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2238
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9918
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50105073551486e-5
allele num: 66620
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

FS
type: SiteQuality
SIO_000300: 8.006e0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.441e0

VQSLOD
type: SiteQuality
SIO_000300: 1.57e-1

QD
type: SiteQuality
SIO_000300: 1.258e1

DP
type: SiteQuality
SIO_000300: 1.679522e6

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

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

GenotypeQuality
all individuals: 378
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10185
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1620
bin: 7.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500600240096038e-5
allele num: 66640
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.952e1

VQSLOD
type: SiteQuality
SIO_000300: 9.68e-1

FS
type: SiteQuality
SIO_000300: 7.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.14e-1

QD
type: SiteQuality
SIO_000300: 1.222e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.679942e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10186
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1616
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 187
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.00080064051241e-4
allele num: 9992
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66652
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.72e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.525e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-3

FS
type: SiteQuality
SIO_000300: 1.027e0

MQRankSum
type: SiteQuality
SIO_000300: -1.065e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.469e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 9.26e0

DP
type: SiteQuality
SIO_000300: 1.680351e6

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

GenotypeQuality
all individuals: 236
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10171
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2229
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 9.75e1
variant carriers: 175

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

Other
type: Population
allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000930288389401e-5
allele num: 66646
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.320027648176948e-4
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 168
allele frequency: 1.671974522292994e-2
allele num: 10048
num of homozygotes: 1

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-2

FS
type: SiteQuality
SIO_000300: 5.26e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

QD
type: SiteQuality
SIO_000300: 1.148e1

VQSLOD
type: SiteQuality
SIO_000300: 2.84e0

DP
type: SiteQuality
SIO_000300: 1.690512e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.21e0

GenotypeQuality
all individuals: 197
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2237
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1610
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10207
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.948269001193792e-5
allele num: 10052
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66646
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -8.24e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.679143e6

QD
type: SiteQuality
SIO_000300: 1.615e1

VQSLOD
type: SiteQuality
SIO_000300: 2.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.57e-1

MQ
type: SiteQuality
SIO_000300: 5.807e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.87e-1

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

GenotypeQuality
all individuals: 45028
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1606
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 2238
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10090
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 6
allele frequency: 3.633720930232558e-4
allele num: 16512
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -9.14e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.99e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.6e-1

DP
type: SiteQuality
SIO_000300: 1.679796e6

VQSLOD
type: SiteQuality
SIO_000300: 4.47e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.32e-1

QD
type: SiteQuality
SIO_000300: 1.386e1

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

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

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

GenotypeQuality
all individuals: 1606
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 9.75e1
variant carriers: 4

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

African
type: Population
allele count: 4
allele frequency: 3.95335046451868e-4
allele num: 10118
num of homozygotes: 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: 0
allele frequency: 0.0e0
allele num: 66648
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.006e1

VQSLOD
type: SiteQuality
SIO_000300: 3.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.91e-1

DP
type: SiteQuality
SIO_000300: 1.679741e6

FS
type: SiteQuality
SIO_000300: 8.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.52e-1

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

GenotypeQuality
all individuals: 202
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 9.75e1
variant carriers: 197

GenotypeQuality
all individuals: 182
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

Latino
type: Population
allele count: 7
allele frequency: 6.049083995852057e-4
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500420117632937e-5
allele num: 66648
num of homozygotes: 0

African
type: Population
allele count: 189
allele frequency: 1.864640883977901e-2
allele num: 10136
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.81e-1

QD
type: SiteQuality
SIO_000300: 1.253e1

DP
type: SiteQuality
SIO_000300: 1.693619e6

MQRankSum
type: SiteQuality
SIO_000300: 3.26e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.05e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.23e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.157e0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2227
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 589
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variant carriers: 0

GenotypeQuality
all individuals: 45127
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66616
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.729804532087874e-4
allele num: 11562
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-1

QD
type: SiteQuality
SIO_000300: 9.720000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.49e-1

FS
type: SiteQuality
SIO_000300: 1.383e0

DP
type: SiteQuality
SIO_000300: 1.678109e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.91e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.580000000000001e-1

GenotypeQuality
all individuals: 181
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 161
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1614
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66600
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.573e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.43e-1

DP
type: SiteQuality
SIO_000300: 1.67808e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.5e-3

QD
type: SiteQuality
SIO_000300: 9.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.603e0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
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variant carriers: 0

GenotypeQuality
all individuals: 10228
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1611
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502494140272853e-5
allele num: 66556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.08e-1

FS
type: SiteQuality
SIO_000300: 4.39e0

DP
type: SiteQuality
SIO_000300: 1.67721e6

MQ
type: SiteQuality
SIO_000300: 5.984e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.462e0

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.02e-1

QD
type: SiteQuality
SIO_000300: 1.113e1

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10216
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1607
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 9.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.202356618973188e-4
allele num: 66536
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10242
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.84e0

DP
type: SiteQuality
SIO_000300: 1.676859e6

MQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

FS
type: SiteQuality
SIO_000300: 5.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.739e0

QD
type: SiteQuality
SIO_000300: 1.177e1

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 44797
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
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GenotypeQuality
all individuals: 248
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variant carriers: 1

GenotypeQuality
all individuals: 469
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505026789476853e-5
allele num: 66444
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10236
num of homozygotes: 0

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
SIO_000300: 8.619999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 4.393e0

DP
type: SiteQuality
SIO_000300: 1.673035e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.26e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505343971097396e-5
allele num: 66430
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10236
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.244e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.743e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.69e0

DP
type: SiteQuality
SIO_000300: 1.672531e6

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.941e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
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South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.505434618974498e-5
allele num: 66426
num of homozygotes: 0

East Asian
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allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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DP
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QD
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ClippingRankSum
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MQRankSum
type: SiteQuality
SIO_000300: -5.1e-2

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.51e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66426
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.341e1

DP
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SIO_000300: 1.672041e6

VQSLOD
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ReadPosRankSum
type: SiteQuality
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FS
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SIO_000300: 0.0e0

MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.787e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10094
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.517865274278255e-5
allele num: 65882
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.928e1

FS
type: SiteQuality
SIO_000300: 1.0565e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.053e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.64971e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.2e-2

MQ
type: SiteQuality
SIO_000300: 5.92e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10092
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517911353976928e-5
allele num: 65880
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.823e0

DP
type: SiteQuality
SIO_000300: 1.649582e6

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

MQ
type: SiteQuality
SIO_000300: 5.914e1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.0754e1

QD
type: SiteQuality
SIO_000300: 2.009e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.75e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 59
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GenotypeQuality
all individuals: 137
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.218769043266301e-4
allele num: 16410
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: 6460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65774
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: 8566
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 8.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.658e0

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.646e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.0e-1

QD
type: SiteQuality
SIO_000300: 1.484e1

VQSLOD
type: SiteQuality
SIO_000300: 2.34e-1

DP
type: SiteQuality
SIO_000300: 1.644018e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 229
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16334
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11316
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9970
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533742331288344e-5
allele num: 65200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6390
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.58e1

MQRankSum
type: SiteQuality
SIO_000300: 8.98e-1

FS
type: SiteQuality
SIO_000300: 3.686e0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.51e-1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6368
num of homozygotes: 0

African
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allele count: 5
allele frequency: 5.033219247030401e-4
allele num: 9934
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South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64992
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11262
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.46e0

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.963e1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.76e-1

QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6124
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10850
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.58533878689876e-5
allele num: 63078
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16006
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.59e0

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
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QD
type: SiteQuality
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MQ
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.62e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6046
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South Asian
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allele frequency: 1.256123602562492e-4
allele num: 15922
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East Asian
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.81e-1

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 541

GenotypeQuality
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bin: 6.25e1
variant carriers: 2

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

European (Non-Finnish)
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allele count: 20
allele frequency: 3.234466474754989e-4
allele num: 61834
num of homozygotes: 0

Latino
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allele count: 23
allele frequency: 2.166132981729139e-3
allele num: 10618
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.546099290780142e-3
allele num: 846
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African
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allele count: 545
allele frequency: 5.776976892092432e-2
allele num: 9434
num of homozygotes: 22

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5934
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15844
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.68e0

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.42e-2

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.79e-1

GenotypeQuality
all individuals: 4434
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18817
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 928
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 796
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3575
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 3.325942350332594e-4
allele num: 9020
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60028
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7786
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5734
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15628
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10170
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

FS
type: SiteQuality
SIO_000300: 3.815e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.692e0

VQSLOD
type: SiteQuality
SIO_000300: 5.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e-1

DP
type: SiteQuality
SIO_000300: 1.19772e6

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.37e-1

QD
type: SiteQuality
SIO_000300: 1.03e1

GenotypeQuality
all individuals: 799
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9034
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59980
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10168
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7776
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.399590426212723e-5
allele num: 15626
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5772
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.279e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.131e0

FS
type: SiteQuality
SIO_000300: 4.929e0

DP
type: SiteQuality
SIO_000300: 1.195914e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -6.647e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.9e-2

QD
type: SiteQuality
SIO_000300: 1.759e1

GenotypeQuality
all individuals: 462
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3471
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21621
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 768
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.727831916511162e-5
allele num: 57876
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8688
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7488
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5524
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9764
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.106638e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.220000000000001e0

GenotypeQuality
all individuals: 11474
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5238
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 751
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7708
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 678
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.766815536608472e-5
allele num: 14778
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6772
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50378
num of homozygotes: 0

Latino
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: 4658
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.69592e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 5.421e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.47e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.83e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 4401
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1046
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7122
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37702
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5976
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 536
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.127583749109053e-5
allele num: 14030
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5594
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.603e0

DP
type: SiteQuality
SIO_000300: 9.0168e5

FS
type: SiteQuality
SIO_000300: 5.351e0

QD
type: SiteQuality
SIO_000300: 1.064e1

MQ
type: SiteQuality
SIO_000300: 5.876e1

MQRankSum
type: SiteQuality
SIO_000300: -7.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.82e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.64e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.508e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.74e-1

GenotypeQuality
all individuals: 2953
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1002
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4499
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5758
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3832
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6678
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6134
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.095217823187172e-5
allele num: 14094
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38746
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.107e0

FS
type: SiteQuality
SIO_000300: 5.948e0

QD
type: SiteQuality
SIO_000300: 2.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.512e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.61e-2

MQ
type: SiteQuality
SIO_000300: 5.787e1

DP
type: SiteQuality
SIO_000300: 8.99911e5

GenotypeQuality
all individuals: 990
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1207
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 286
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1462
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7355
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5458
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6146
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 2.014775016789792e-3
allele num: 2978
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5830
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.420641803989592e-5
allele num: 36896
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13874
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.82e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.908e0

QD
type: SiteQuality
SIO_000300: 1.57e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.495e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-2

DP
type: SiteQuality
SIO_000300: 8.97398e5

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

FS
type: SiteQuality
SIO_000300: 2.902e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.37e-1

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

GenotypeQuality
all individuals: 7776
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 843
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4554
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1471
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7066
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4112
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14156
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 588
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.63e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.97111e5

QD
type: SiteQuality
SIO_000300: 1.194e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.159e0

GenotypeQuality
all individuals: 477
bin: 5.75e1
variant carriers: 21

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5802
bin: 6.25e1
variant carriers: 21

GenotypeQuality
all individuals: 851
bin: 5.25e1
variant carriers: 29

GenotypeQuality
all individuals: 636
bin: 6.75e1
variant carriers: 11

GenotypeQuality
all individuals: 1424
bin: 3.75e1
variant carriers: 31

Latino
type: Population
allele count: 21
allele frequency: 6.187389510901591e-3
allele num: 3394
num of homozygotes: 0

African
type: Population
allele count: 27
allele frequency: 7.927187316500293e-3
allele num: 3406
num of homozygotes: 0

East Asian
type: Population
allele count: 34
allele frequency: 1.251840942562592e-2
allele num: 2716
num of homozygotes: 0

South Asian
type: Population
allele count: 15
allele frequency: 1.319957761351637e-3
allele num: 11364
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 63
allele frequency: 4.861111111111111e-2
allele num: 1296
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 1.136363636363636e-2
allele num: 352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 130
allele frequency: 5.508474576271186e-3
allele num: 23600
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.193e1

FS
type: SiteQuality
SIO_000300: 5.3558e1

QD
type: SiteQuality
SIO_000300: 1.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.161e0

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.59311e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.47e-2

GenotypeQuality
all individuals: 555
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14557
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2682
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.280397701359117e-5
allele num: 43852
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3698
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6250
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13558
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.42e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e0

DP
type: SiteQuality
SIO_000300: 9.10432e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.699999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.511e0

VQSLOD
type: SiteQuality
SIO_000300: -3.245e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.299999999999999e-3

GenotypeQuality
all individuals: 18
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 216
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 795
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43852
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6250
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.778726431874778e-4
allele num: 5622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6866
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3698
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.299999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.245e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e0

MQRankSum
type: SiteQuality
SIO_000300: -4.49e-1

QD
type: SiteQuality
SIO_000300: 8.699999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.42e-1

DP
type: SiteQuality
SIO_000300: 9.10432e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.511e0

GenotypeQuality
all individuals: 454
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 7.75e1
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GenotypeQuality
all individuals: 16
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GenotypeQuality
all individuals: 270
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.791472590469366e-4
allele num: 5582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43402
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6780
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6208
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3688
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

QD
type: SiteQuality
SIO_000300: 6.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.093e0

DP
type: SiteQuality
SIO_000300: 9.09698e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.800000000000001e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 886
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13213
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3434
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.698946653075094e-4
allele num: 5886
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5284
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13126
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41146
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.60866e5

VQSLOD
type: SiteQuality
SIO_000300: -1.184e0

MQRankSum
type: SiteQuality
SIO_000300: 7.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-2

FS
type: SiteQuality
SIO_000300: 4.256e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.938e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-2

MQ
type: SiteQuality
SIO_000300: 5.827e1

QD
type: SiteQuality
SIO_000300: 8.58e0

GenotypeQuality
all individuals: 15
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2416
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 7.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41340
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6442
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5316
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13174
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5918
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.220000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.299999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.13e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 8.59456e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 291
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2858
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3464
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5324
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5920
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6448
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13158
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.827186715582159e-5
allele num: 41432
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

MQ
type: SiteQuality
SIO_000300: 5.863e1

DP
type: SiteQuality
SIO_000300: 8.59067e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.1e-3

FS
type: SiteQuality
SIO_000300: 3.21e0

VQSLOD
type: SiteQuality
SIO_000300: -1.638e0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

QD
type: SiteQuality
SIO_000300: 3.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.33e-1

GenotypeQuality
all individuals: 42
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2897
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4590
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2904
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.732539075308777e-5
allele num: 36596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5192
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 508
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.7772e5

QD
type: SiteQuality
SIO_000300: 1.077e1

MQRankSum
type: SiteQuality
SIO_000300: -4.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.22e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

MQ
type: SiteQuality
SIO_000300: 5.871e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.33e0

VQSLOD
type: SiteQuality
SIO_000300: -9.723000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

GenotypeQuality
all individuals: 902
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9811
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 2073
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.99488327470419e-5
allele num: 12508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4562
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.367166138029093e-4
allele num: 36572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2888
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.932740626207963e-4
allele num: 5174
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.25e-1

MQ
type: SiteQuality
SIO_000300: 5.884e1

VQSLOD
type: SiteQuality
SIO_000300: -2.199e-1

QD
type: SiteQuality
SIO_000300: 1.184e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.1e-1

DP
type: SiteQuality
SIO_000300: 7.76114e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.26e-2

GenotypeQuality
all individuals: 111
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1053
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10082
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.755883811938489e-5
allele num: 36286
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5456
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5166
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4550
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.01667468334135e-5
allele num: 12474
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.12e-1

QD
type: SiteQuality
SIO_000300: 8.67e0

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.99e0

VQSLOD
type: SiteQuality
SIO_000300: -1.409e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.31e-2

DP
type: SiteQuality
SIO_000300: 7.73759e5

MQ
type: SiteQuality
SIO_000300: 5.871e1

GenotypeQuality
all individuals: 253
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10321
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
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variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 3

GenotypeQuality
all individuals: 9
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variant carriers: 1

GenotypeQuality
all individuals: 1069
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5166
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.099444780385905e-4
allele num: 36382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2888
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.073e1

FS
type: SiteQuality
SIO_000300: 1.0964e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.29e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.265e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.01e-1

DP
type: SiteQuality
SIO_000300: 7.71963e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-2

GenotypeQuality
all individuals: 555
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 875
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variant carriers: 0

GenotypeQuality
all individuals: 9
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GenotypeQuality
all individuals: 41
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4820
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2332
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36104
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2838
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.844337882700111e-4
allele num: 5422
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 508
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.225189141076991e-4
allele num: 4494
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.87e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.70225e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.36e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.392e0

QD
type: SiteQuality
SIO_000300: 8.56e0

GenotypeQuality
all individuals: 1416
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
all individuals: 36
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variant carriers: 0

GenotypeQuality
all individuals: 182
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4126
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4998
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12042
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4840
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.97495091330993e-5
allele num: 33614
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.05e-1

QD
type: SiteQuality
SIO_000300: 3.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.48e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.007e0

FS
type: SiteQuality
SIO_000300: 5.237e0

VQSLOD
type: SiteQuality
SIO_000300: -2.617e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.03e0

DP
type: SiteQuality
SIO_000300: 7.31141e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 36
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GenotypeQuality
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GenotypeQuality
all individuals: 176
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GenotypeQuality
all individuals: 851
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GenotypeQuality
all individuals: 258
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4622
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.699524133242692e-4
allele num: 11768
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4672
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31716
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.09e0

DP
type: SiteQuality
SIO_000300: 7.09156e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

VQSLOD
type: SiteQuality
SIO_000300: -9.05e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.424e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.57e-2

MQRankSum
type: SiteQuality
SIO_000300: -8.41e-1

FS
type: SiteQuality
SIO_000300: 2.652e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.384e1

GenotypeQuality
all individuals: 260
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8400
bin: 6.25e1
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GenotypeQuality
all individuals: 255
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GenotypeQuality
all individuals: 949
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variant carriers: 0

GenotypeQuality
all individuals: 2542
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31716
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2352
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3880
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11768
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.140410958904109e-4
allele num: 4672
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.652e0

QD
type: SiteQuality
SIO_000300: 1.384e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.424e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

VQSLOD
type: SiteQuality
SIO_000300: -9.05e-2

MQRankSum
type: SiteQuality
SIO_000300: -8.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.57e-2

DP
type: SiteQuality
SIO_000300: 7.09156e5

GenotypeQuality
all individuals: 156
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 4.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11232
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27366
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1770
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3288
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 400
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3902
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3866
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.81e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.001e0

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.54775e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.95e-2

QD
type: SiteQuality
SIO_000300: 6.05e0

GenotypeQuality
all individuals: 156
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1927
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variant carriers: 0

GenotypeQuality
all individuals: 8932
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2288
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GenotypeQuality
all individuals: 13
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11232
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27366
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1770
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3866
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.041362530413625e-4
allele num: 3288
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3902
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.54775e5

BaseQRankSum
type: SiteQuality
SIO_000300: -5.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.95e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

QD
type: SiteQuality
SIO_000300: 6.05e0

GenotypeQuality
all individuals: 114
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 149
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variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1684
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3782
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11178
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.180661577608143e-4
allele num: 3144
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 394
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3748
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.363e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.18e-2

MQRankSum
type: SiteQuality
SIO_000300: -6.78e-1

FS
type: SiteQuality
SIO_000300: 1.685e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

QD
type: SiteQuality
SIO_000300: 7.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.79e-1

DP
type: SiteQuality
SIO_000300: 6.43056e5

ClippingRankSum
type: SiteQuality
SIO_000300: 6.78e-1

GenotypeQuality
all individuals: 188
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 2.788622420524261e-4
allele num: 3586
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11024
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3716
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3074
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 7.734550235903782e-5
allele num: 25858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1636
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 9.417e0

VQSLOD
type: SiteQuality
SIO_000300: -1.677e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.42e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.55e-1

DP
type: SiteQuality
SIO_000300: 6.41681e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

QD
type: SiteQuality
SIO_000300: 3.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.73e-1

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 586
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GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 78
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 330
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21000
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2712
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2390
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 9.041591320072332e-4
allele num: 1106
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2848
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.379e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.262e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.95e-2

QD
type: SiteQuality
SIO_000300: 3.79e0

FS
type: SiteQuality
SIO_000300: 1.2436e1

MQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

DP
type: SiteQuality
SIO_000300: 5.98241e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.78e-1

GenotypeQuality
all individuals: 1192
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
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variant carriers: 0

GenotypeQuality
all individuals: 31748
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variant carriers: 0

GenotypeQuality
all individuals: 71
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variant carriers: 0

GenotypeQuality
all individuals: 26
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GenotypeQuality
all individuals: 19
bin: 9.75e1
variant carriers: 5

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2934
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2266
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.961938395134393e-4
allele num: 20388
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1220
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.38e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

FS
type: SiteQuality
SIO_000300: 4.609e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.84578e5

QD
type: SiteQuality
SIO_000300: 9.75e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 340
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2218
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20128
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1184
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2920
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10050
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 4.022526146419951e-4
allele num: 2486
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.76e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 4.28e0

MQ
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.14e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 1
allele frequency: 4.651162790697675e-4
allele num: 2150
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2390
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1128
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19670
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.74374e5

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 9.5e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 2306
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 278
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1626
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15284
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1634
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.24574e5

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.53e-2

MQ
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
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allele frequency: 1.122838535818549e-4
allele num: 8906
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African
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 14064
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.917e1

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.0057e1

DP
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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African
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East Asian
type: Population
allele count: 0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8230
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 4.67961e5

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.27e-2

QD
type: SiteQuality
SIO_000300: 1.251e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.349e-1

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 197
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1768
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.500285008550257e-5
allele num: 10526
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1106
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7888
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 392
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.003e1

DP
type: SiteQuality
SIO_000300: 4.55307e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.15e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.2025e1

VQSLOD
type: SiteQuality
SIO_000300: -1.376e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.59e-2

GenotypeQuality
all individuals: 1499
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4620
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.894298162530782e-4
allele num: 10558
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 5.656108597285068e-4
allele num: 1768
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7886
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1086
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.166e0

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.467e1

FS
type: SiteQuality
SIO_000300: 1.1722e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.55e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.46e-1

DP
type: SiteQuality
SIO_000300: 4.54205e5

VQSLOD
type: SiteQuality
SIO_000300: -8.855e-1

GenotypeQuality
all individuals: 82
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 73
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 408
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 942
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8656
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1488
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 4.137931034482759e-4
allele num: 7250
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.25429e5

ClippingRankSum
type: SiteQuality
SIO_000300: 4.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.87e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.659e-1

FS
type: SiteQuality
SIO_000300: 1.0573e1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.92e-2

QD
type: SiteQuality
SIO_000300: 1.059e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 22
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 92
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 9.25e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 942
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.344086021505376e-3
allele num: 1488
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.155268022181146e-4
allele num: 8656
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.0573e1

QD
type: SiteQuality
SIO_000300: 1.059e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.87e-1

DP
type: SiteQuality
SIO_000300: 4.25429e5

VQSLOD
type: SiteQuality
SIO_000300: -3.659e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.92e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 95
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3758
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19691
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3708
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 282
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8254
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7038
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.414e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.93e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.48e0

DP
type: SiteQuality
SIO_000300: 4.17048e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 96
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18873
bin: 2.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 8.223684210526315e-4
allele num: 1216
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6280
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5492
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.757e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.32e-2

QD
type: SiteQuality
SIO_000300: 1.338e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.67e-1

DP
type: SiteQuality
SIO_000300: 3.71245e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.28e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-1

GenotypeQuality
all individuals: 2066
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25855
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
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variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 9.75e1
variant carriers: 4

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6146
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 518
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.633986928104575e-3
allele num: 1224
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.363e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.26e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 3.074e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

DP
type: SiteQuality
SIO_000300: 3.66649e5

GenotypeQuality
all individuals: 25694
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 1

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 738
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5238
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1192
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 7.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.42e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.244e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.22e-1

DP
type: SiteQuality
SIO_000300: 3.62835e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e0

GenotypeQuality
all individuals: 8
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2002
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 241
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5106
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1212
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.721e0

DP
type: SiteQuality
SIO_000300: 3.63201e5

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.17e-2

QD
type: SiteQuality
SIO_000300: 3.55e0

GenotypeQuality
all individuals: 12
bin: 9.25e1
variant carriers: 6

GenotypeQuality
all individuals: 54
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variant carriers: 3

GenotypeQuality
all individuals: 26
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GenotypeQuality
all individuals: 71
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variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 9.75e1
variant carriers: 66

GenotypeQuality
all individuals: 11
bin: 8.75e1
variant carriers: 3

Other
type: Population
allele count: 1
allele frequency: 7.042253521126761e-3
allele num: 142
num of homozygotes: 0

African
type: Population
allele count: 46
allele frequency: 3.846153846153846e-2
allele num: 1196
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 7.96812749003984e-3
allele num: 502
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 4.083299305839118e-4
allele num: 4898
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.757469244288225e-4
allele num: 5690
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.06e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -8.76e-1

DP
type: SiteQuality
SIO_000300: 3.57782e5

QD
type: SiteQuality
SIO_000300: 1.297e1

GenotypeQuality
all individuals: 55
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1618
bin: 6.25e1
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GenotypeQuality
all individuals: 56
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variant carriers: 0

GenotypeQuality
all individuals: 183
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variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 9.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5392
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 468
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.21141088014153e-4
allele num: 4522
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1136
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.883e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.21e-2

DP
type: SiteQuality
SIO_000300: 3.52516e5

MQRankSum
type: SiteQuality
SIO_000300: 1.93e0

QD
type: SiteQuality
SIO_000300: 1.544e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.15e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2908
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 6.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5168
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4166
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.683e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

DP
type: SiteQuality
SIO_000300: 3.47653e5

QD
type: SiteQuality
SIO_000300: 5.81e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.31e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.2e-1

GenotypeQuality
all individuals: 49
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1501
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4202
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 472
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1106
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 692
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5232
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.06e-1

QD
type: SiteQuality
SIO_000300: 8.6e0

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.22e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-1

DP
type: SiteQuality
SIO_000300: 3.48054e5

VQSLOD
type: SiteQuality
SIO_000300: -1.353e0

FS
type: SiteQuality
SIO_000300: 1.027e0

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

GenotypeQuality
all individuals: 168
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 9.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2019
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4150
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 462
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5190
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1094
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

DP
type: SiteQuality
SIO_000300: 3.47244e5

VQSLOD
type: SiteQuality
SIO_000300: -2.065e0

QD
type: SiteQuality
SIO_000300: 6.1e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.23e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

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

GenotypeQuality
all individuals: 975
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 390
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2938
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1002
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 94
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.346316283435007e-4
allele num: 4262
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.232e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.74e-2

DP
type: SiteQuality
SIO_000300: 3.16293e5

QD
type: SiteQuality
SIO_000300: 5.18e0

MQ
type: SiteQuality
SIO_000300: 5.852e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.651e0

MQRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e0