http://identifiers.org/exac.variant/6-130763008-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130763008
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 130763008
    reference: chr 6
allele count: 23
allele frequency: 1.929562576553298e-4
allele num: 119198
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164484
  ensembl protein: ENSP00000296978
  ensembl transcript: ENST00000296978
  gene symbol: TMEM200A
  hgvsc: ENST00000296978.3:c.1441A>C
  hgvsp: ENSP00000296978.3:p.Asn481His
  variant of: http://identifiers.org/hgnc/21075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164484
  ensembl protein: ENSP00000438928
  ensembl transcript: ENST00000545622
  gene symbol: TMEM200A
  hgvsc: ENST00000545622.1:c.1441A>C
  hgvsp: ENSP00000438928.1:p.Asn481His
  variant of: http://identifiers.org/hgnc/21075
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164484
  ensembl protein: ENSP00000376224
  ensembl transcript: ENST00000392429
  gene symbol: TMEM200A
  hgvsc: ENST00000392429.1:c.1441A>C
  hgvsp: ENSP00000376224.1:p.Asn481His
  variant of: http://identifiers.org/hgnc/21075
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11772
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30782
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7696
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 9.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43495
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1506
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asn481His
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

6-130763028-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130763028
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 130763028
    reference: chr 6
allele count: 1
allele frequency: 8.582217645039478e-6
allele num: 116520
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164484
  ensembl protein: ENSP00000438928
  ensembl transcript: ENST00000545622
  gene symbol: TMEM200A
  hgvsc: ENST00000545622.1:c.1461T>A
  hgvsp: ENST00000545622.1:c.1461T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21075
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164484
  ensembl protein: ENSP00000376224
  ensembl transcript: ENST00000392429
  gene symbol: TMEM200A
  hgvsc: ENST00000392429.1:c.1461T>A
  hgvsp: ENST00000392429.1:c.1461T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164484
  ensembl protein: ENSP00000296978
  ensembl transcript: ENST00000296978
  gene symbol: TMEM200A
  hgvsc: ENST00000296978.3:c.1461T>A
  hgvsp: ENST00000296978.3:c.1461T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21075
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10331
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4005
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7403
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41116
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser487Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

6-130763036-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130763036
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 130763036
    reference: chr 6
allele count: 1
allele frequency: 8.70079699300456e-6
allele num: 114932
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164484
  ensembl protein: ENSP00000296978
  ensembl transcript: ENST00000296978
  gene symbol: TMEM200A
  hgvsc: ENST00000296978.3:c.1469G>A
  hgvsp: ENSP00000296978.3:p.Arg490Lys
  variant of: http://identifiers.org/hgnc/21075
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164484
  ensembl protein: ENSP00000376224
  ensembl transcript: ENST00000392429
  gene symbol: TMEM200A
  hgvsc: ENST00000392429.1:c.1469G>A
  hgvsp: ENSP00000376224.1:p.Arg490Lys
  variant of: http://identifiers.org/hgnc/21075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164484
  ensembl protein: ENSP00000438928
  ensembl transcript: ENST00000545622
  gene symbol: TMEM200A
  hgvsc: ENST00000545622.1:c.1469G>A
  hgvsp: ENSP00000438928.1:p.Arg490Lys
  variant of: http://identifiers.org/hgnc/21075
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39605
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7227
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5328
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg490Lys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

6-130763043-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130763043
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 130763043
    reference: chr 6
allele count: 1
allele frequency: 8.850497397953764e-6
allele num: 112988
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: stop_retained_variant
  ensembl gene: ENSG00000164484
  ensembl protein: ENSP00000376224
  ensembl transcript: ENST00000392429
  gene symbol: TMEM200A
  hgvsc: ENST00000392429.1:c.1476A>G
  hgvsp: ENST00000392429.1:c.1476A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21075
annotation: Annotation
  canonical: false
  consequence: stop_retained_variant
  ensembl gene: ENSG00000164484
  ensembl protein: ENSP00000438928
  ensembl transcript: ENST00000545622
  gene symbol: TMEM200A
  hgvsc: ENST00000545622.1:c.1476A>G
  hgvsp: ENST00000545622.1:c.1476A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21075
annotation: Annotation
  canonical: false
  consequence: stop_retained_variant
  ensembl gene: ENSG00000164484
  ensembl protein: ENSP00000296978
  ensembl transcript: ENST00000296978
  gene symbol: TMEM200A
  hgvsc: ENST00000296978.3:c.1476A>G
  hgvsp: ENST00000296978.3:c.1476A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21075
canonical: true
consequence: stop retained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4536
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10945
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37415
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7037
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6775
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1435
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ter492Ter
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

6-130763052-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130763052
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 130763052
    reference: chr 6
allele count: 3
allele frequency: 2.705822930947399e-5
allele num: 110872
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164484
  ensembl protein: ENSP00000438928
  ensembl transcript: ENST00000545622
  gene symbol: TMEM200A
  hgvsc: ENST00000545622.1:c.*9G>A
  variant of: http://identifiers.org/hgnc/21075
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164484
  ensembl protein: ENSP00000376224
  ensembl transcript: ENST00000392429
  gene symbol: TMEM200A
  hgvsc: ENST00000392429.1:c.*9G>A
  variant of: http://identifiers.org/hgnc/21075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164484
  ensembl protein: ENSP00000296978
  ensembl transcript: ENST00000296978
  gene symbol: TMEM200A
  hgvsc: ENST00000296978.3:c.*9G>A
  variant of: http://identifiers.org/hgnc/21075
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4041
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10436
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8426
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35096
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1480
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6710
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1920
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

6-130763053-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130763053
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 130763053
    reference: chr 6
allele count: 4
allele frequency: 3.61722522652873e-5
allele num: 110582
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164484
  ensembl protein: ENSP00000438928
  ensembl transcript: ENST00000545622
  gene symbol: TMEM200A
  hgvsc: ENST00000545622.1:c.*10A>G
  variant of: http://identifiers.org/hgnc/21075
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164484
  ensembl protein: ENSP00000376224
  ensembl transcript: ENST00000392429
  gene symbol: TMEM200A
  hgvsc: ENST00000392429.1:c.*10A>G
  variant of: http://identifiers.org/hgnc/21075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164484
  ensembl protein: ENSP00000296978
  ensembl transcript: ENST00000296978
  gene symbol: TMEM200A
  hgvsc: ENST00000296978.3:c.*10A>G
  variant of: http://identifiers.org/hgnc/21075
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6408
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25331
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8731
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34722
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1918
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6695
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

6-130763054-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130763054
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 130763054
    reference: chr 6
allele count: 1
allele frequency: 9.06799180253541e-6
allele num: 110278
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164484
  ensembl protein: ENSP00000438928
  ensembl transcript: ENST00000545622
  gene symbol: TMEM200A
  hgvsc: ENST00000545622.1:c.*11A>G
  variant of: http://identifiers.org/hgnc/21075
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164484
  ensembl protein: ENSP00000376224
  ensembl transcript: ENST00000392429
  gene symbol: TMEM200A
  hgvsc: ENST00000392429.1:c.*11A>G
  variant of: http://identifiers.org/hgnc/21075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164484
  ensembl protein: ENSP00000296978
  ensembl transcript: ENST00000296978
  gene symbol: TMEM200A
  hgvsc: ENST00000296978.3:c.*11A>G
  variant of: http://identifiers.org/hgnc/21075
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6757
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6663
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9000
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34230
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1914
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

6-130763054-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130763054
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 130763054
    reference: chr 6
allele count: 1
allele frequency: 9.06799180253541e-6
allele num: 110278
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164484
  ensembl protein: ENSP00000376224
  ensembl transcript: ENST00000392429
  gene symbol: TMEM200A
  hgvsc: ENST00000392429.1:c.*11A>T
  variant of: http://identifiers.org/hgnc/21075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164484
  ensembl protein: ENSP00000438928
  ensembl transcript: ENST00000545622
  gene symbol: TMEM200A
  hgvsc: ENST00000545622.1:c.*11A>T
  variant of: http://identifiers.org/hgnc/21075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164484
  ensembl protein: ENSP00000296978
  ensembl transcript: ENST00000296978
  gene symbol: TMEM200A
  hgvsc: ENST00000296978.3:c.*11A>T
  variant of: http://identifiers.org/hgnc/21075
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6757
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34230
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9000
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6663
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1914
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

6-130763056-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130763056
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 130763056
    reference: chr 6
allele count: 4
allele frequency: 3.665420423722601e-5
allele num: 109128
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164484
  ensembl protein: ENSP00000296978
  ensembl transcript: ENST00000296978
  gene symbol: TMEM200A
  hgvsc: ENST00000296978.3:c.*13A>G
  variant of: http://identifiers.org/hgnc/21075
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164484
  ensembl protein: ENSP00000376224
  ensembl transcript: ENST00000392429
  gene symbol: TMEM200A
  hgvsc: ENST00000392429.1:c.*13A>G
  variant of: http://identifiers.org/hgnc/21075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164484
  ensembl protein: ENSP00000438928
  ensembl transcript: ENST00000545622
  gene symbol: TMEM200A
  hgvsc: ENST00000545622.1:c.*13A>G
  variant of: http://identifiers.org/hgnc/21075
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7762
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4573
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7795
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6213
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32523
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9737
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

6-130763062-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130763062
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 130763062
    reference: chr 6
allele count: 1
allele frequency: 9.309426725502244e-6
allele num: 107418
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164484
  ensembl protein: ENSP00000296978
  ensembl transcript: ENST00000296978
  gene symbol: TMEM200A
  hgvsc: ENST00000296978.3:c.*19T>C
  variant of: http://identifiers.org/hgnc/21075
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164484
  ensembl protein: ENSP00000376224
  ensembl transcript: ENST00000392429
  gene symbol: TMEM200A
  hgvsc: ENST00000392429.1:c.*19T>C
  variant of: http://identifiers.org/hgnc/21075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164484
  ensembl protein: ENSP00000438928
  ensembl transcript: ENST00000545622
  gene symbol: TMEM200A
  hgvsc: ENST00000545622.1:c.*19T>C
  variant of: http://identifiers.org/hgnc/21075
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22111
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9612
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5018
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7341
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5940
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10994
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1755
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1909
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1760
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30069
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1857
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: QD

6-130763071-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130763071
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 130763071
    reference: chr 6
allele count: 1
allele frequency: 9.605225242531937e-6
allele num: 104110
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164484
  ensembl protein: ENSP00000296978
  ensembl transcript: ENST00000296978
  gene symbol: TMEM200A
  hgvsc: ENST00000296978.3:c.*28G>T
  variant of: http://identifiers.org/hgnc/21075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164484
  ensembl protein: ENSP00000438928
  ensembl transcript: ENST00000545622
  gene symbol: TMEM200A
  hgvsc: ENST00000545622.1:c.*28G>T
  variant of: http://identifiers.org/hgnc/21075
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164484
  ensembl protein: ENSP00000376224
  ensembl transcript: ENST00000392429
  gene symbol: TMEM200A
  hgvsc: ENST00000392429.1:c.*28G>T
  variant of: http://identifiers.org/hgnc/21075
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3913
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13613
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6185
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5727
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17507
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2927
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1158
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3857
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23417
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12497
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2656
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4705
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1965
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

6-130763073-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130763073
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 130763073
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 103196
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164484
  ensembl protein: ENSP00000296978
  ensembl transcript: ENST00000296978
  gene symbol: TMEM200A
  hgvsc: ENST00000296978.3:c.*30T>C
  variant of: http://identifiers.org/hgnc/21075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164484
  ensembl protein: ENSP00000438928
  ensembl transcript: ENST00000545622
  gene symbol: TMEM200A
  hgvsc: ENST00000545622.1:c.*30T>C
  variant of: http://identifiers.org/hgnc/21075
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164484
  ensembl protein: ENSP00000376224
  ensembl transcript: ENST00000392429
  gene symbol: TMEM200A
  hgvsc: ENST00000392429.1:c.*30T>C
  variant of: http://identifiers.org/hgnc/21075
canonical: true
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5577
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5582
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2963
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4797
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2783
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20497
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1905
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12444
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3323
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

6-130763079-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130763079
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 130763079
    reference: chr 6
allele count: 4
allele frequency: 3.953116043721463e-5
allele num: 101186
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164484
  ensembl protein: ENSP00000438928
  ensembl transcript: ENST00000545622
  gene symbol: TMEM200A
  hgvsc: ENST00000545622.1:c.*36T>C
  variant of: http://identifiers.org/hgnc/21075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164484
  ensembl protein: ENSP00000296978
  ensembl transcript: ENST00000296978
  gene symbol: TMEM200A
  hgvsc: ENST00000296978.3:c.*36T>C
  variant of: http://identifiers.org/hgnc/21075
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164484
  ensembl protein: ENSP00000376224
  ensembl transcript: ENST00000392429
  gene symbol: TMEM200A
  hgvsc: ENST00000392429.1:c.*36T>C
  variant of: http://identifiers.org/hgnc/21075
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4836
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15129
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11701
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6346
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4742
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15099
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3788
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1570
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3532
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11879
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

6-130763087-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130763087
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 130763087
    reference: chr 6
allele count: 4
allele frequency: 4.110827920743238e-5
allele num: 97304
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164484
  ensembl protein: ENSP00000376224
  ensembl transcript: ENST00000392429
  gene symbol: TMEM200A
  hgvsc: ENST00000392429.1:c.*44C>T
  variant of: http://identifiers.org/hgnc/21075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164484
  ensembl protein: ENSP00000296978
  ensembl transcript: ENST00000296978
  gene symbol: TMEM200A
  hgvsc: ENST00000296978.3:c.*44C>T
  variant of: http://identifiers.org/hgnc/21075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164484
  ensembl protein: ENSP00000438928
  ensembl transcript: ENST00000545622
  gene symbol: TMEM200A
  hgvsc: ENST00000545622.1:c.*44C>T
  variant of: http://identifiers.org/hgnc/21075
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3139
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14076
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7095
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3341
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13877
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7883
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1809
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1909
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9950
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7078
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3798
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6514
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3847
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1811
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8775
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2929
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2479
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD

6-130763095-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130763095
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 130763095
    reference: chr 6
allele count: 2
allele frequency: 2.131241874640353e-5
allele num: 93842
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164484
  ensembl protein: ENSP00000376224
  ensembl transcript: ENST00000392429
  gene symbol: TMEM200A
  hgvsc: ENST00000392429.1:c.*52A>G
  variant of: http://identifiers.org/hgnc/21075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164484
  ensembl protein: ENSP00000296978
  ensembl transcript: ENST00000296978
  gene symbol: TMEM200A
  hgvsc: ENST00000296978.3:c.*52A>G
  variant of: http://identifiers.org/hgnc/21075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164484
  ensembl protein: ENSP00000438928
  ensembl transcript: ENST00000545622
  gene symbol: TMEM200A
  hgvsc: ENST00000545622.1:c.*52A>G
  variant of: http://identifiers.org/hgnc/21075
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13740
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8898
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3411
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7681
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3137
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2148
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3784
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4573
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3572
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3878
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4943
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3563
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7115
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1909
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6665
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1969
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

6-131148521-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131148521
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131148521
    reference: chr 6
allele count: 1
allele frequency: 8.26856292376385e-5
allele num: 12094
alternate allele: C
canonical: true
consequence: upstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2584
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 198
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 1.331203407880724e-4
  allele num: 7512
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3514
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 186
  num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/6-131148524-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131148524
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131148524
    reference: chr 6
allele count: 1
allele frequency: 8.246742536698004e-5
allele num: 12126
alternate allele: C
canonical: true
consequence: upstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  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 quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2695
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 188
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 1.328374070138151e-4
  allele num: 7528
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 554
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP

6-131148541-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131148541
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131148541
    reference: chr 6
allele count: 9657
allele frequency: 7.835929892891919e-1
allele num: 12324
alternate allele: G
canonical: true
consequence: upstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 310
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 3.75e1
  variant carriers: 879
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 146
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 2.25e1
  variant carriers: 119
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 3.25e1
  variant carriers: 573
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.75e1
  variant carriers: 537
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 4.75e1
  variant carriers: 929
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 2.5e0
  variant carriers: 519
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 2.75e1
  variant carriers: 306
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 4.25e1
  variant carriers: 1013
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 5.25e1
  variant carriers: 767
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.5e0
  variant carriers: 197
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 8.75e1
  variant carriers: 52
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 7.5e0
  variant carriers: 326
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 1.25e1
  variant carriers: 160
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 6.75e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.75e1
  variant carriers: 58
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.25e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 6.25e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.75e1
  variant carriers: 112
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 8.25e1
  variant carriers: 89
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5376
  bin: 9.75e1
  variant carriers: 5366
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 9.25e1
  variant carriers: 133
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.25e1
  variant carriers: 58
num of homozygotes: 3837
population: Other
  type: Population
  allele count: 101
  allele frequency: 7.651515151515151e-1
  allele num: 132
  num of homozygotes: 39
population: European (Non-Finnish)
  type: Population
  allele count: 2367
  allele frequency: 6.545907079646017e-1
  allele num: 3616
  num of homozygotes: 775
population: South Asian
  type: Population
  allele count: 6377
  allele frequency: 8.368766404199475e-1
  allele num: 7620
  num of homozygotes: 2678
population: African
  type: Population
  allele count: 473
  allele frequency: 8.386524822695035e-1
  allele num: 564
  num of homozygotes: 197
population: European (Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS

6-131148562-CAAAGGCCG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131148562
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131148554
    reference: chr 6
allele count: 2
allele frequency: 1.622849724115547e-4
allele num: 12324
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000256162
  ensembl protein: ENSP00000456026
  ensembl transcript: ENST00000541421
  gene symbol: SMLR1
  hgvsc: ENST00000541421.2:c.10_17delAAAGGCCG
  hgvsp: ENSP00000456026.1:p.Lys4GlufsTer73
  variant of: http://identifiers.org/hgnc/44670
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1819
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3363
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys4GlufsTer73
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 1.312335958005249e-4
  allele num: 7620
  num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: CAAAGGCCG
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

6-131148569-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131148569
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131148569
    reference: chr 6
allele count: 2
allele frequency: 1.623640201331385e-4
allele num: 12318
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256162
  ensembl protein: ENSP00000456026
  ensembl transcript: ENST00000541421
  gene symbol: SMLR1
  hgvsc: ENST00000541421.2:c.16C>T
  hgvsp: ENSP00000456026.1:p.Arg6Trp
  variant of: http://identifiers.org/hgnc/44670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3367
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1916
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg6Trp
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 1.312680493567866e-4
  allele num: 7618
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 198
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP

6-131148613-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131148613
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131148613
    reference: chr 6
allele count: 1
allele frequency: 8.111615833874107e-5
allele num: 12328
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000256162
  ensembl protein: ENSP00000456026
  ensembl transcript: ENST00000541421
  gene symbol: SMLR1
  hgvsc: ENST00000541421.2:c.60C>T
  hgvsp: ENST00000541421.2:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/44670
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3370
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2450
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala20Ala
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 188
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 132
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

6-131148635-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131148635
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131148635
    reference: chr 6
allele count: 1
allele frequency: 8.110300081103001e-5
allele num: 12330
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256162
  ensembl protein: ENSP00000456026
  ensembl transcript: ENST00000541421
  gene symbol: SMLR1
  hgvsc: ENST00000541421.2:c.82A>T
  hgvsp: ENSP00000456026.1:p.Met28Leu
  variant of: http://identifiers.org/hgnc/44670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3370
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Met28Leu
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 2.754820936639118e-4
  allele num: 3630
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2
  num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
reference allele: A
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

6-131148643-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131148643
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131148643
    reference: chr 6
allele count: 1
allele frequency: 8.110300081103001e-5
allele num: 12330
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000256162
  ensembl protein: ENSP00000456026
  ensembl transcript: ENST00000541421
  gene symbol: SMLR1
  hgvsc: ENST00000541421.2:c.90C>T
  hgvsp: ENST00000541421.2:c.90C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/44670
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2483
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1251
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3370
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro30Pro
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 1.312335958005249e-4
  allele num: 7620
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3630
  num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum

6-131148644-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131148644
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131148644
    reference: chr 6
allele count: 154
allele frequency: 1.248581157775255e-2
allele num: 12334
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256162
  ensembl protein: ENSP00000456026
  ensembl transcript: ENST00000541421
  gene symbol: SMLR1
  hgvsc: ENST00000541421.2:c.91G>A
  hgvsp: ENSP00000456026.1:p.Val31Met
  variant of: http://identifiers.org/hgnc/44670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.75e1
  variant carriers: 146
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2445
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3419
  bin: 9.75e1
  variant carriers: 152
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 9.25e1
  variant carriers: 1
hgvs: p.Val31Met
num of homozygotes: 2
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2
  num of homozygotes: 0
population: African
  type: Population
  allele count: 17
  allele frequency: 3.02491103202847e-2
  allele num: 562
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

6-131148657-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131148657
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131148657
    reference: chr 6
allele count: 16
allele frequency: 1.297437560817386e-3
allele num: 12332
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256162
  ensembl protein: ENSP00000456026
  ensembl transcript: ENST00000541421
  gene symbol: SMLR1
  hgvsc: ENST00000541421.2:c.104G>T
  hgvsp: ENSP00000456026.1:p.Trp35Leu
  variant of: http://identifiers.org/hgnc/44670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2931
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3414
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2656
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Trp35Leu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 188
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 198
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

6-131148658-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131148658
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131148658
    reference: chr 6
allele count: 1
allele frequency: 8.110300081103001e-5
allele num: 12330
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256162
  ensembl protein: ENSP00000456026
  ensembl transcript: ENST00000541421
  gene symbol: SMLR1
  hgvsc: ENST00000541421.2:c.105G>C
  hgvsp: ENSP00000456026.1:p.Trp35Cys
  variant of: http://identifiers.org/hgnc/44670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2730
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3414
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Trp35Cys
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 198
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

6-131148675-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131148675
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131148675
    reference: chr 6
allele count: 1
allele frequency: 8.112932013629726e-5
allele num: 12326
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256162
  ensembl protein: ENSP00000456026
  ensembl transcript: ENST00000541421
  gene symbol: SMLR1
  hgvsc: ENST00000541421.2:c.122T>C
  hgvsp: ENSP00000456026.1:p.Val41Ala
  variant of: http://identifiers.org/hgnc/44670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3414
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2782
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val41Ala
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3626
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 1.312335958005249e-4
  allele num: 7620
  num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

6-131148678-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131148678
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131148678
    reference: chr 6
allele count: 1
allele frequency: 8.112932013629726e-5
allele num: 12326
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256162
  ensembl protein: ENSP00000456026
  ensembl transcript: ENST00000541421
  gene symbol: SMLR1
  hgvsc: ENST00000541421.2:c.125T>C
  hgvsp: ENSP00000456026.1:p.Leu42Pro
  variant of: http://identifiers.org/hgnc/44670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2814
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3414
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu42Pro
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7620
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 560
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum

6-131148713-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131148713
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131148713
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 12324
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000256162
  ensembl protein: ENSP00000456026
  ensembl transcript: ENST00000541421
  gene symbol: SMLR1
  hgvsc: ENST00000541421.2:c.160C>T
  hgvsp: ENST00000541421.2:c.160C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/44670
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3414
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2909
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu54Leu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3624
  num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP

6-131148721-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131148721
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131148721
    reference: chr 6
allele count: 1
allele frequency: 8.110300081103001e-5
allele num: 12330
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000256162
  ensembl protein: ENSP00000456026
  ensembl transcript: ENST00000541421
  gene symbol: SMLR1
  hgvsc: ENST00000541421.2:c.168T>C
  hgvsp: ENST00000541421.2:c.168T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/44670
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2891
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3414
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Phe56Phe
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3628
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 562
  num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

6-131148724-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131148724
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131148724
    reference: chr 6
allele count: 2
allele frequency: 1.622323166774821e-4
allele num: 12328
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000256162
  ensembl protein: ENSP00000456026
  ensembl transcript: ENST00000541421
  gene symbol: SMLR1
  hgvsc: ENST00000541421.2:c.171G>A
  hgvsp: ENST00000541421.2:c.171G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/44670
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3414
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2925
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly57Gly
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 560
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

6-131148737-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131148737
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131148737
    reference: chr 6
allele count: 5130
allele frequency: 4.147800776196636e-1
allele num: 12368
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256162
  ensembl protein: ENSP00000456026
  ensembl transcript: ENST00000541421
  gene symbol: SMLR1
  hgvsc: ENST00000541421.2:c.184G>A
  hgvsp: ENSP00000456026.1:p.Val62Met
  variant of: http://identifiers.org/hgnc/44670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 2.5e0
  variant carriers: 310
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3512
  bin: 9.75e1
  variant carriers: 3506
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 116
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.5e0
  variant carriers: 176
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 1732
  bin: 7.5e0
  variant carriers: 186
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 8.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 6.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.25e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 54
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 7.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 6.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.25e1
  variant carriers: 91
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4201
  bin: 9.75e1
  variant carriers: 4008
hgvs: p.Val62Met
num of homozygotes: 1116
population: Other
  type: Population
  allele count: 56
  allele frequency: 4.242424242424243e-1
  allele num: 132
  num of homozygotes: 12
population: European (Non-Finnish)
  type: Population
  allele count: 968
  allele frequency: 2.654964344487109e-1
  allele num: 3646
  num of homozygotes: 131
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum

6-131148740-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131148740
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131148740
    reference: chr 6
allele count: 11
allele frequency: 8.909768346023004e-4
allele num: 12346
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256162
  ensembl protein: ENSP00000456026
  ensembl transcript: ENST00000541421
  gene symbol: SMLR1
  hgvsc: ENST00000541421.2:c.187A>G
  hgvsp: ENSP00000456026.1:p.Thr63Ala
  variant of: http://identifiers.org/hgnc/44670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2876
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3326
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr63Ala
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 188
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2
  num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

6-131148764-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131148764
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131148764
    reference: chr 6
allele count: 1
allele frequency: 8.10898475510866e-5
allele num: 12332
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256162
  ensembl protein: ENSP00000456026
  ensembl transcript: ENST00000541421
  gene symbol: SMLR1
  hgvsc: ENST00000541421.2:c.211G>A
  hgvsp: ENSP00000456026.1:p.Ala71Thr
  variant of: http://identifiers.org/hgnc/44670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  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 quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2661
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala71Thr
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3630
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 188
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

6-131148804-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131148804
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131148804
    reference: chr 6
allele count: 3
allele frequency: 2.449379490529066e-4
allele num: 12248
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256162
  ensembl protein: ENSP00000456026
  ensembl transcript: ENST00000541421
  gene symbol: SMLR1
  hgvsc: ENST00000541421.2:c.238+13C>G
  variant of: http://identifiers.org/hgnc/44670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3179
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2299
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 130
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 560
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 198
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

6-131148820-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131148820
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131148820
    reference: chr 6
allele count: 1
allele frequency: 8.207485226526592e-5
allele num: 12184
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256162
  ensembl protein: ENSP00000456026
  ensembl transcript: ENST00000541421
  gene symbol: SMLR1
  hgvsc: ENST00000541421.2:c.238+29T>C
  variant of: http://identifiers.org/hgnc/44670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2091
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2541
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3548
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 186
  num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

6-131148827-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131148827
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131148826
    reference: chr 6
allele count: 1
allele frequency: 8.241305422778968e-5
allele num: 12134
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256162
  ensembl protein: ENSP00000456026
  ensembl transcript: ENST00000541421
  gene symbol: SMLR1
  hgvsc: ENST00000541421.2:c.238+38delC
  variant of: http://identifiers.org/hgnc/44670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2065
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2288
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 1.326963906581741e-4
  allele num: 7536
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 198
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 186
  num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: TC
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

6-131156004-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131156004
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131156004
    reference: chr 6
allele count: 3
allele frequency: 2.460226340823356e-4
allele num: 12194
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256162
  ensembl protein: ENSP00000456026
  ensembl transcript: ENST00000541421
  gene symbol: SMLR1
  hgvsc: ENST00000541421.2:c.239-6T>C
  variant of: http://identifiers.org/hgnc/44670
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  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 quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2648
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1290
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: c.239-6T>C
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 182
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 192
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

6-131156019-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131156019
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131156019
    reference: chr 6
allele count: 1
allele frequency: 8.176614881439084e-5
allele num: 12230
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256162
  ensembl protein: ENSP00000456026
  ensembl transcript: ENST00000541421
  gene symbol: SMLR1
  hgvsc: ENST00000541421.2:c.248A>T
  hgvsp: ENSP00000456026.1:p.Glu83Val
  variant of: http://identifiers.org/hgnc/44670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  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: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  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: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1436
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2723
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu83Val
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 132
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 192
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum

6-131156026-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131156026
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131156026
    reference: chr 6
allele count: 1
allele frequency: 8.163265306122449e-5
allele num: 12250
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000256162
  ensembl protein: ENSP00000456026
  ensembl transcript: ENST00000541421
  gene symbol: SMLR1
  hgvsc: ENST00000541421.2:c.255C>T
  hgvsp: ENST00000541421.2:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/44670
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  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: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2741
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser85Ser
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 182
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3582
  num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

6-131156071-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131156071
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131156070
    reference: chr 6
allele count: 30
allele frequency: 2.44140625e-3
allele num: 12288
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000256162
  ensembl protein: ENSP00000456026
  ensembl transcript: ENST00000541421
  gene symbol: SMLR1
  hgvsc: ENST00000541421.2:c.301delT
  hgvsp: ENSP00000456026.1:p.Tyr101ThrfsTer4
  variant of: http://identifiers.org/hgnc/44670
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1534
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 9.75e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2734
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Tyr101ThrfsTer4
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 5
  allele frequency: 1.386577925679423e-3
  allele num: 3606
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 556
  num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: GT
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

6-131156092-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131156092
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131156092
    reference: chr 6
allele count: 7
allele frequency: 5.696614583333334e-4
allele num: 12288
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000256162
  ensembl protein: ENSP00000456026
  ensembl transcript: ENST00000541421
  gene symbol: SMLR1
  hgvsc: ENST00000541421.2:c.321G>T
  hgvsp: ENST00000541421.2:c.321G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/44670
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2644
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1438
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr107Thr
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 556
  num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ

6-131156102-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131156102
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131156102
    reference: chr 6
allele count: 4164
allele frequency: 3.390879478827362e-1
allele num: 12280
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000256162
  ensembl protein: ENSP00000456026
  ensembl transcript: ENST00000541421
  gene symbol: SMLR1
  hgvsc: ENST00000541421.2:c.*7G>T
  variant of: http://identifiers.org/hgnc/44670
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 157
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 2.5e0
  variant carriers: 116
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 3.25e1
  variant carriers: 167
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 283
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 2.25e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 3.75e1
  variant carriers: 170
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 330
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 336
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.25e1
  variant carriers: 225
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 275
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 211
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 2.75e1
  variant carriers: 112
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.25e1
  variant carriers: 357
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 389
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 71
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 9.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 6.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 7.5e0
  variant carriers: 69
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 6.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3492
  bin: 9.75e1
  variant carriers: 3355
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 7.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 8.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 1
num of homozygotes: 755
population: East Asian
  type: Population
  allele count: 112
  allele frequency: 5.714285714285714e-1
  allele num: 196
  num of homozygotes: 31
population: African
  type: Population
  allele count: 162
  allele frequency: 2.934782608695652e-1
  allele num: 552
  num of homozygotes: 25
population: European (Finnish)
  type: Population
  allele count: 1
  allele frequency: 5.0e-1
  allele num: 2
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

6-131179228-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131179228
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131179228
    reference: chr 6
allele count: 197
allele frequency: 1.623162612879837e-3
allele num: 121368
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000357110
  ensembl transcript: ENST00000368128
  gene symbol: EPB41L2
  hgvsc: ENST00000368128.2:c.*48C>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436348
  ensembl transcript: ENST00000527411
  gene symbol: EPB41L2
  hgvsc: ENST00000527411.1:c.*5+43C>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434308
  ensembl transcript: ENST00000528282
  gene symbol: EPB41L2
  hgvsc: ENST00000528282.1:c.*5+43C>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000376222
  ensembl transcript: ENST00000392427
  gene symbol: EPB41L2
  hgvsc: ENST00000392427.3:c.*5+43C>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000437207
  ensembl transcript: ENST00000524581
  gene symbol: EPB41L2
  hgvsc: ENST00000524581.1:c.*5+43C>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000432803
  ensembl transcript: ENST00000525271
  gene symbol: EPB41L2
  hgvsc: ENST00000525271.1:c.*5+43C>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434576
  ensembl transcript: ENST00000530481
  gene symbol: EPB41L2
  hgvsc: ENST00000530481.1:c.*5+43C>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000368126
  gene symbol: EPB41L2
  hgvsc: ENST00000368126.2:n.492+43C>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000452150
  gene symbol: EPB41L2
  hgvsc: ENST00000452150.2:n.1742+43C>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436349
  ensembl transcript: ENST00000530757
  gene symbol: EPB41L2
  hgvsc: ENST00000530757.1:c.*5+43C>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000402041
  ensembl transcript: ENST00000445890
  gene symbol: EPB41L2
  hgvsc: ENST00000445890.2:c.*5+43C>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434596
  ensembl transcript: ENST00000531410
  gene symbol: EPB41L2
  hgvsc: ENST00000531410.1:c.*5+43C>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000526782
  gene symbol: EPB41L2
  hgvsc: ENST00000526782.1:n.198+43C>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000338481
  ensembl transcript: ENST00000337057
  gene symbol: EPB41L2
  hgvsc: ENST00000337057.3:c.*5+43C>G
  variant of: http://identifiers.org/hgnc/3379
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6398
  bin: 5.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3914
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3923
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 7.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 6260
  bin: 5.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 5785
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 7.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 4853
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5366
  bin: 6.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 4428
  bin: 6.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 4619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 2
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

6-131179230-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131179230
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131179230
    reference: chr 6
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000357110
  ensembl transcript: ENST00000368128
  gene symbol: EPB41L2
  hgvsc: ENST00000368128.2:c.*46C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000338481
  ensembl transcript: ENST00000337057
  gene symbol: EPB41L2
  hgvsc: ENST00000337057.3:c.*5+41C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434576
  ensembl transcript: ENST00000530481
  gene symbol: EPB41L2
  hgvsc: ENST00000530481.1:c.*5+41C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000376222
  ensembl transcript: ENST00000392427
  gene symbol: EPB41L2
  hgvsc: ENST00000392427.3:c.*5+41C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000526782
  gene symbol: EPB41L2
  hgvsc: ENST00000526782.1:n.198+41C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000432803
  ensembl transcript: ENST00000525271
  gene symbol: EPB41L2
  hgvsc: ENST00000525271.1:c.*5+41C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000402041
  ensembl transcript: ENST00000445890
  gene symbol: EPB41L2
  hgvsc: ENST00000445890.2:c.*5+41C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434308
  ensembl transcript: ENST00000528282
  gene symbol: EPB41L2
  hgvsc: ENST00000528282.1:c.*5+41C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434596
  ensembl transcript: ENST00000531410
  gene symbol: EPB41L2
  hgvsc: ENST00000531410.1:c.*5+41C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436349
  ensembl transcript: ENST00000530757
  gene symbol: EPB41L2
  hgvsc: ENST00000530757.1:c.*5+41C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436348
  ensembl transcript: ENST00000527411
  gene symbol: EPB41L2
  hgvsc: ENST00000527411.1:c.*5+41C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000368126
  gene symbol: EPB41L2
  hgvsc: ENST00000368126.2:n.492+41C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000437207
  ensembl transcript: ENST00000524581
  gene symbol: EPB41L2
  hgvsc: ENST00000524581.1:c.*5+41C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000452150
  gene symbol: EPB41L2
  hgvsc: ENST00000452150.2:n.1742+41C>T
  variant of: http://identifiers.org/hgnc/3379
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4868
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5798
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6406
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6263
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP

6-131179237-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131179237
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131179237
    reference: chr 6
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000368126
  gene symbol: EPB41L2
  hgvsc: ENST00000368126.2:n.492+34G>A
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000376222
  ensembl transcript: ENST00000392427
  gene symbol: EPB41L2
  hgvsc: ENST00000392427.3:c.*5+34G>A
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000357110
  ensembl transcript: ENST00000368128
  gene symbol: EPB41L2
  hgvsc: ENST00000368128.2:c.*39G>A
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000432803
  ensembl transcript: ENST00000525271
  gene symbol: EPB41L2
  hgvsc: ENST00000525271.1:c.*5+34G>A
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434576
  ensembl transcript: ENST00000530481
  gene symbol: EPB41L2
  hgvsc: ENST00000530481.1:c.*5+34G>A
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436348
  ensembl transcript: ENST00000527411
  gene symbol: EPB41L2
  hgvsc: ENST00000527411.1:c.*5+34G>A
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000526782
  gene symbol: EPB41L2
  hgvsc: ENST00000526782.1:n.198+34G>A
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000452150
  gene symbol: EPB41L2
  hgvsc: ENST00000452150.2:n.1742+34G>A
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000402041
  ensembl transcript: ENST00000445890
  gene symbol: EPB41L2
  hgvsc: ENST00000445890.2:c.*5+34G>A
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434596
  ensembl transcript: ENST00000531410
  gene symbol: EPB41L2
  hgvsc: ENST00000531410.1:c.*5+34G>A
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434308
  ensembl transcript: ENST00000528282
  gene symbol: EPB41L2
  hgvsc: ENST00000528282.1:c.*5+34G>A
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436349
  ensembl transcript: ENST00000530757
  gene symbol: EPB41L2
  hgvsc: ENST00000530757.1:c.*5+34G>A
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000437207
  ensembl transcript: ENST00000524581
  gene symbol: EPB41L2
  hgvsc: ENST00000524581.1:c.*5+34G>A
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000338481
  ensembl transcript: ENST00000337057
  gene symbol: EPB41L2
  hgvsc: ENST00000337057.3:c.*5+34G>A
  variant of: http://identifiers.org/hgnc/3379
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5797
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4428
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4660
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6406
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

6-131179245-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131179245
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131179244
    reference: chr 6
allele count: 2
allele frequency: 1.647582173160887e-5
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000437207
  ensembl transcript: ENST00000524581
  gene symbol: EPB41L2
  hgvsc: ENST00000524581.1:c.*5+25delG
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000357110
  ensembl transcript: ENST00000368128
  gene symbol: EPB41L2
  hgvsc: ENST00000368128.2:c.*30delG
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434308
  ensembl transcript: ENST00000528282
  gene symbol: EPB41L2
  hgvsc: ENST00000528282.1:c.*5+25delG
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000452150
  gene symbol: EPB41L2
  hgvsc: ENST00000452150.2:n.1742+25delG
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000376222
  ensembl transcript: ENST00000392427
  gene symbol: EPB41L2
  hgvsc: ENST00000392427.3:c.*5+25delG
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000338481
  ensembl transcript: ENST00000337057
  gene symbol: EPB41L2
  hgvsc: ENST00000337057.3:c.*5+25delG
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000402041
  ensembl transcript: ENST00000445890
  gene symbol: EPB41L2
  hgvsc: ENST00000445890.2:c.*5+25delG
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000526782
  gene symbol: EPB41L2
  hgvsc: ENST00000526782.1:n.198+25delG
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000432803
  ensembl transcript: ENST00000525271
  gene symbol: EPB41L2
  hgvsc: ENST00000525271.1:c.*5+25delG
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434596
  ensembl transcript: ENST00000531410
  gene symbol: EPB41L2
  hgvsc: ENST00000531410.1:c.*5+25delG
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000368126
  gene symbol: EPB41L2
  hgvsc: ENST00000368126.2:n.492+25delG
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436348
  ensembl transcript: ENST00000527411
  gene symbol: EPB41L2
  hgvsc: ENST00000527411.1:c.*5+25delG
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434576
  ensembl transcript: ENST00000530481
  gene symbol: EPB41L2
  hgvsc: ENST00000530481.1:c.*5+25delG
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436349
  ensembl transcript: ENST00000530757
  gene symbol: EPB41L2
  hgvsc: ENST00000530757.1:c.*5+25delG
  variant of: http://identifiers.org/hgnc/3379
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4428
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6406
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5799
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5364
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: GC
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: MQ

6-131179256-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131179256
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131179256
    reference: chr 6
allele count: 2
allele frequency: 1.647555028337947e-5
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000338481
  ensembl transcript: ENST00000337057
  gene symbol: EPB41L2
  hgvsc: ENST00000337057.3:c.*5+15A>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436349
  ensembl transcript: ENST00000530757
  gene symbol: EPB41L2
  hgvsc: ENST00000530757.1:c.*5+15A>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434596
  ensembl transcript: ENST00000531410
  gene symbol: EPB41L2
  hgvsc: ENST00000531410.1:c.*5+15A>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000402041
  ensembl transcript: ENST00000445890
  gene symbol: EPB41L2
  hgvsc: ENST00000445890.2:c.*5+15A>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000357110
  ensembl transcript: ENST00000368128
  gene symbol: EPB41L2
  hgvsc: ENST00000368128.2:c.*20A>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000437207
  ensembl transcript: ENST00000524581
  gene symbol: EPB41L2
  hgvsc: ENST00000524581.1:c.*5+15A>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436348
  ensembl transcript: ENST00000527411
  gene symbol: EPB41L2
  hgvsc: ENST00000527411.1:c.*5+15A>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434576
  ensembl transcript: ENST00000530481
  gene symbol: EPB41L2
  hgvsc: ENST00000530481.1:c.*5+15A>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000452150
  gene symbol: EPB41L2
  hgvsc: ENST00000452150.2:n.1742+15A>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000376222
  ensembl transcript: ENST00000392427
  gene symbol: EPB41L2
  hgvsc: ENST00000392427.3:c.*5+15A>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000368126
  gene symbol: EPB41L2
  hgvsc: ENST00000368126.2:n.492+15A>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000432803
  ensembl transcript: ENST00000525271
  gene symbol: EPB41L2
  hgvsc: ENST00000525271.1:c.*5+15A>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434308
  ensembl transcript: ENST00000528282
  gene symbol: EPB41L2
  hgvsc: ENST00000528282.1:c.*5+15A>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000526782
  gene symbol: EPB41L2
  hgvsc: ENST00000526782.1:n.198+15A>G
  variant of: http://identifiers.org/hgnc/3379
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4861
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5799
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3785
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4427
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6405
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6266
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

6-131179257-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131179257
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131179257
    reference: chr 6
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000452150
  gene symbol: EPB41L2
  hgvsc: ENST00000452150.2:n.1742+14C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000338481
  ensembl transcript: ENST00000337057
  gene symbol: EPB41L2
  hgvsc: ENST00000337057.3:c.*5+14C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000402041
  ensembl transcript: ENST00000445890
  gene symbol: EPB41L2
  hgvsc: ENST00000445890.2:c.*5+14C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434576
  ensembl transcript: ENST00000530481
  gene symbol: EPB41L2
  hgvsc: ENST00000530481.1:c.*5+14C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000376222
  ensembl transcript: ENST00000392427
  gene symbol: EPB41L2
  hgvsc: ENST00000392427.3:c.*5+14C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000368126
  gene symbol: EPB41L2
  hgvsc: ENST00000368126.2:n.492+14C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436349
  ensembl transcript: ENST00000530757
  gene symbol: EPB41L2
  hgvsc: ENST00000530757.1:c.*5+14C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000526782
  gene symbol: EPB41L2
  hgvsc: ENST00000526782.1:n.198+14C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436348
  ensembl transcript: ENST00000527411
  gene symbol: EPB41L2
  hgvsc: ENST00000527411.1:c.*5+14C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434596
  ensembl transcript: ENST00000531410
  gene symbol: EPB41L2
  hgvsc: ENST00000531410.1:c.*5+14C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434308
  ensembl transcript: ENST00000528282
  gene symbol: EPB41L2
  hgvsc: ENST00000528282.1:c.*5+14C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000357110
  ensembl transcript: ENST00000368128
  gene symbol: EPB41L2
  hgvsc: ENST00000368128.2:c.*19C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000437207
  ensembl transcript: ENST00000524581
  gene symbol: EPB41L2
  hgvsc: ENST00000524581.1:c.*5+14C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000432803
  ensembl transcript: ENST00000525271
  gene symbol: EPB41L2
  hgvsc: ENST00000525271.1:c.*5+14C>T
  variant of: http://identifiers.org/hgnc/3379
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5798
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6405
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4427
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4862
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3953
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

6-131179283-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131179283
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131179283
    reference: chr 6
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434308
  ensembl transcript: ENST00000528282
  gene symbol: EPB41L2
  hgvsc: ENST00000528282.1:c.2237A>C
  hgvsp: ENSP00000434308.1:p.Glu746Ala
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436348
  ensembl transcript: ENST00000527411
  gene symbol: EPB41L2
  hgvsc: ENST00000527411.1:c.2801A>C
  hgvsp: ENSP00000436348.1:p.Glu934Ala
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000437207
  ensembl transcript: ENST00000524581
  gene symbol: EPB41L2
  hgvsc: ENST00000524581.1:c.1145A>C
  hgvsp: ENSP00000437207.1:p.Glu382Ala
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436641
  ensembl transcript: ENST00000529208
  gene symbol: EPB41L2
  hgvsc: ENST00000529208.1:c.2801A>C
  hgvsp: ENSP00000436641.1:p.Glu934Ala
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000402041
  ensembl transcript: ENST00000445890
  gene symbol: EPB41L2
  hgvsc: ENST00000445890.2:c.2237A>C
  hgvsp: ENSP00000402041.2:p.Glu746Ala
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434576
  ensembl transcript: ENST00000530481
  gene symbol: EPB41L2
  hgvsc: ENST00000530481.1:c.2552A>C
  hgvsp: ENSP00000434576.1:p.Glu851Ala
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000431647
  ensembl transcript: ENST00000527659
  gene symbol: EPB41L2
  hgvsc: ENST00000527659.1:c.2429A>C
  hgvsp: ENSP00000431647.1:p.Glu810Ala
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000526782
  gene symbol: EPB41L2
  hgvsc: ENST00000526782.1:n.186A>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000432803
  ensembl transcript: ENST00000525271
  gene symbol: EPB41L2
  hgvsc: ENST00000525271.1:c.2015A>C
  hgvsp: ENSP00000432803.1:p.Glu672Ala
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000431988
  ensembl transcript: ENST00000525193
  gene symbol: EPB41L2
  hgvsc: ENST00000525193.1:c.2114A>C
  hgvsp: ENSP00000431988.1:p.Glu705Ala
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436349
  ensembl transcript: ENST00000530757
  gene symbol: EPB41L2
  hgvsc: ENST00000530757.1:c.599A>C
  hgvsp: ENSP00000436349.1:p.Glu200Ala
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000338481
  ensembl transcript: ENST00000337057
  gene symbol: EPB41L2
  hgvsc: ENST00000337057.3:c.3011A>C
  hgvsp: ENSP00000338481.3:p.Glu1004Ala
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000357110
  ensembl transcript: ENST00000368128
  gene symbol: EPB41L2
  hgvsc: ENST00000368128.2:c.3011A>C
  hgvsp: ENSP00000357110.2:p.Glu1004Ala
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000376222
  ensembl transcript: ENST00000392427
  gene symbol: EPB41L2
  hgvsc: ENST00000392427.3:c.2015A>C
  hgvsp: ENSP00000376222.3:p.Glu672Ala
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000452150
  gene symbol: EPB41L2
  hgvsc: ENST00000452150.2:n.1730A>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000368126
  gene symbol: EPB41L2
  hgvsc: ENST00000368126.2:n.480A>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434596
  ensembl transcript: ENST00000531410
  gene symbol: EPB41L2
  hgvsc: ENST00000531410.1:c.374A>C
  hgvsp: ENSP00000434596.1:p.Glu125Ala
  variant of: http://identifiers.org/hgnc/3379
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5799
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1004Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

6-131179284-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131179284
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131179284
    reference: chr 6
allele count: 10
allele frequency: 8.237639422047218e-5
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000368126
  gene symbol: EPB41L2
  hgvsc: ENST00000368126.2:n.479G>A
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000431647
  ensembl transcript: ENST00000527659
  gene symbol: EPB41L2
  hgvsc: ENST00000527659.1:c.2428G>A
  hgvsp: ENSP00000431647.1:p.Glu810Lys
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436641
  ensembl transcript: ENST00000529208
  gene symbol: EPB41L2
  hgvsc: ENST00000529208.1:c.2800G>A
  hgvsp: ENSP00000436641.1:p.Glu934Lys
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434308
  ensembl transcript: ENST00000528282
  gene symbol: EPB41L2
  hgvsc: ENST00000528282.1:c.2236G>A
  hgvsp: ENSP00000434308.1:p.Glu746Lys
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000432803
  ensembl transcript: ENST00000525271
  gene symbol: EPB41L2
  hgvsc: ENST00000525271.1:c.2014G>A
  hgvsp: ENSP00000432803.1:p.Glu672Lys
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000376222
  ensembl transcript: ENST00000392427
  gene symbol: EPB41L2
  hgvsc: ENST00000392427.3:c.2014G>A
  hgvsp: ENSP00000376222.3:p.Glu672Lys
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434596
  ensembl transcript: ENST00000531410
  gene symbol: EPB41L2
  hgvsc: ENST00000531410.1:c.373G>A
  hgvsp: ENSP00000434596.1:p.Glu125Lys
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436348
  ensembl transcript: ENST00000527411
  gene symbol: EPB41L2
  hgvsc: ENST00000527411.1:c.2800G>A
  hgvsp: ENSP00000436348.1:p.Glu934Lys
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000338481
  ensembl transcript: ENST00000337057
  gene symbol: EPB41L2
  hgvsc: ENST00000337057.3:c.3010G>A
  hgvsp: ENSP00000338481.3:p.Glu1004Lys
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000437207
  ensembl transcript: ENST00000524581
  gene symbol: EPB41L2
  hgvsc: ENST00000524581.1:c.1144G>A
  hgvsp: ENSP00000437207.1:p.Glu382Lys
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434576
  ensembl transcript: ENST00000530481
  gene symbol: EPB41L2
  hgvsc: ENST00000530481.1:c.2551G>A
  hgvsp: ENSP00000434576.1:p.Glu851Lys
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000431988
  ensembl transcript: ENST00000525193
  gene symbol: EPB41L2
  hgvsc: ENST00000525193.1:c.2113G>A
  hgvsp: ENSP00000431988.1:p.Glu705Lys
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000526782
  gene symbol: EPB41L2
  hgvsc: ENST00000526782.1:n.185G>A
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000402041
  ensembl transcript: ENST00000445890
  gene symbol: EPB41L2
  hgvsc: ENST00000445890.2:c.2236G>A
  hgvsp: ENSP00000402041.2:p.Glu746Lys
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436349
  ensembl transcript: ENST00000530757
  gene symbol: EPB41L2
  hgvsc: ENST00000530757.1:c.598G>A
  hgvsp: ENSP00000436349.1:p.Glu200Lys
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000452150
  gene symbol: EPB41L2
  hgvsc: ENST00000452150.2:n.1729G>A
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000357110
  ensembl transcript: ENST00000368128
  gene symbol: EPB41L2
  hgvsc: ENST00000368128.2:c.3010G>A
  hgvsp: ENSP00000357110.2:p.Glu1004Lys
  variant of: http://identifiers.org/hgnc/3379
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1004Lys
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP

6-131179287-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131179287
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131179287
    reference: chr 6
allele count: 245
allele frequency: 2.018221658401568e-3
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434308
  ensembl transcript: ENST00000528282
  gene symbol: EPB41L2
  hgvsc: ENST00000528282.1:c.2233G>A
  hgvsp: ENSP00000434308.1:p.Gly745Arg
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000431988
  ensembl transcript: ENST00000525193
  gene symbol: EPB41L2
  hgvsc: ENST00000525193.1:c.2110G>A
  hgvsp: ENSP00000431988.1:p.Gly704Arg
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000338481
  ensembl transcript: ENST00000337057
  gene symbol: EPB41L2
  hgvsc: ENST00000337057.3:c.3007G>A
  hgvsp: ENSP00000338481.3:p.Gly1003Arg
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000376222
  ensembl transcript: ENST00000392427
  gene symbol: EPB41L2
  hgvsc: ENST00000392427.3:c.2011G>A
  hgvsp: ENSP00000376222.3:p.Gly671Arg
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000431647
  ensembl transcript: ENST00000527659
  gene symbol: EPB41L2
  hgvsc: ENST00000527659.1:c.2425G>A
  hgvsp: ENSP00000431647.1:p.Gly809Arg
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434596
  ensembl transcript: ENST00000531410
  gene symbol: EPB41L2
  hgvsc: ENST00000531410.1:c.370G>A
  hgvsp: ENSP00000434596.1:p.Gly124Arg
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000432803
  ensembl transcript: ENST00000525271
  gene symbol: EPB41L2
  hgvsc: ENST00000525271.1:c.2011G>A
  hgvsp: ENSP00000432803.1:p.Gly671Arg
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000526782
  gene symbol: EPB41L2
  hgvsc: ENST00000526782.1:n.182G>A
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434576
  ensembl transcript: ENST00000530481
  gene symbol: EPB41L2
  hgvsc: ENST00000530481.1:c.2548G>A
  hgvsp: ENSP00000434576.1:p.Gly850Arg
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000402041
  ensembl transcript: ENST00000445890
  gene symbol: EPB41L2
  hgvsc: ENST00000445890.2:c.2233G>A
  hgvsp: ENSP00000402041.2:p.Gly745Arg
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436641
  ensembl transcript: ENST00000529208
  gene symbol: EPB41L2
  hgvsc: ENST00000529208.1:c.2797G>A
  hgvsp: ENSP00000436641.1:p.Gly933Arg
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436349
  ensembl transcript: ENST00000530757
  gene symbol: EPB41L2
  hgvsc: ENST00000530757.1:c.595G>A
  hgvsp: ENSP00000436349.1:p.Gly199Arg
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436348
  ensembl transcript: ENST00000527411
  gene symbol: EPB41L2
  hgvsc: ENST00000527411.1:c.2797G>A
  hgvsp: ENSP00000436348.1:p.Gly933Arg
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000452150
  gene symbol: EPB41L2
  hgvsc: ENST00000452150.2:n.1726G>A
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000437207
  ensembl transcript: ENST00000524581
  gene symbol: EPB41L2
  hgvsc: ENST00000524581.1:c.1141G>A
  hgvsp: ENSP00000437207.1:p.Gly381Arg
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000368126
  gene symbol: EPB41L2
  hgvsc: ENST00000368126.2:n.476G>A
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000357110
  ensembl transcript: ENST00000368128
  gene symbol: EPB41L2
  hgvsc: ENST00000368128.2:c.3007G>A
  hgvsp: ENSP00000357110.2:p.Gly1003Arg
  variant of: http://identifiers.org/hgnc/3379
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5791
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4850
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 6263
  bin: 5.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
hgvs: p.Gly1003Arg
num of homozygotes: 6
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP

6-131179297-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131179297
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131179297
    reference: chr 6
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000431647
  ensembl transcript: ENST00000527659
  gene symbol: EPB41L2
  hgvsc: ENST00000527659.1:c.2415G>C
  hgvsp: ENSP00000431647.1:p.Leu805Phe
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436641
  ensembl transcript: ENST00000529208
  gene symbol: EPB41L2
  hgvsc: ENST00000529208.1:c.2787G>C
  hgvsp: ENSP00000436641.1:p.Leu929Phe
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000338481
  ensembl transcript: ENST00000337057
  gene symbol: EPB41L2
  hgvsc: ENST00000337057.3:c.2997G>C
  hgvsp: ENSP00000338481.3:p.Leu999Phe
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436348
  ensembl transcript: ENST00000527411
  gene symbol: EPB41L2
  hgvsc: ENST00000527411.1:c.2787G>C
  hgvsp: ENSP00000436348.1:p.Leu929Phe
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000368126
  gene symbol: EPB41L2
  hgvsc: ENST00000368126.2:n.466G>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434576
  ensembl transcript: ENST00000530481
  gene symbol: EPB41L2
  hgvsc: ENST00000530481.1:c.2538G>C
  hgvsp: ENSP00000434576.1:p.Leu846Phe
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000452150
  gene symbol: EPB41L2
  hgvsc: ENST00000452150.2:n.1716G>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000431988
  ensembl transcript: ENST00000525193
  gene symbol: EPB41L2
  hgvsc: ENST00000525193.1:c.2100G>C
  hgvsp: ENSP00000431988.1:p.Leu700Phe
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434596
  ensembl transcript: ENST00000531410
  gene symbol: EPB41L2
  hgvsc: ENST00000531410.1:c.360G>C
  hgvsp: ENSP00000434596.1:p.Leu120Phe
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000357110
  ensembl transcript: ENST00000368128
  gene symbol: EPB41L2
  hgvsc: ENST00000368128.2:c.2997G>C
  hgvsp: ENSP00000357110.2:p.Leu999Phe
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436349
  ensembl transcript: ENST00000530757
  gene symbol: EPB41L2
  hgvsc: ENST00000530757.1:c.585G>C
  hgvsp: ENSP00000436349.1:p.Leu195Phe
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000432803
  ensembl transcript: ENST00000525271
  gene symbol: EPB41L2
  hgvsc: ENST00000525271.1:c.2001G>C
  hgvsp: ENSP00000432803.1:p.Leu667Phe
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434308
  ensembl transcript: ENST00000528282
  gene symbol: EPB41L2
  hgvsc: ENST00000528282.1:c.2223G>C
  hgvsp: ENSP00000434308.1:p.Leu741Phe
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000402041
  ensembl transcript: ENST00000445890
  gene symbol: EPB41L2
  hgvsc: ENST00000445890.2:c.2223G>C
  hgvsp: ENSP00000402041.2:p.Leu741Phe
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000376222
  ensembl transcript: ENST00000392427
  gene symbol: EPB41L2
  hgvsc: ENST00000392427.3:c.2001G>C
  hgvsp: ENSP00000376222.3:p.Leu667Phe
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000437207
  ensembl transcript: ENST00000524581
  gene symbol: EPB41L2
  hgvsc: ENST00000524581.1:c.1131G>C
  hgvsp: ENSP00000437207.1:p.Leu377Phe
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000526782
  gene symbol: EPB41L2
  hgvsc: ENST00000526782.1:n.172G>C
  variant of: http://identifiers.org/hgnc/3379
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5360
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3778
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu999Phe
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

6-131179299-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131179299
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131179299
    reference: chr 6
allele count: 2
allele frequency: 1.647500741375333e-5
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000431988
  ensembl transcript: ENST00000525193
  gene symbol: EPB41L2
  hgvsc: ENST00000525193.1:c.2098T>C
  hgvsp: ENST00000525193.1:c.2098T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000437207
  ensembl transcript: ENST00000524581
  gene symbol: EPB41L2
  hgvsc: ENST00000524581.1:c.1129T>C
  hgvsp: ENST00000524581.1:c.1129T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000338481
  ensembl transcript: ENST00000337057
  gene symbol: EPB41L2
  hgvsc: ENST00000337057.3:c.2995T>C
  hgvsp: ENST00000337057.3:c.2995T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000432803
  ensembl transcript: ENST00000525271
  gene symbol: EPB41L2
  hgvsc: ENST00000525271.1:c.1999T>C
  hgvsp: ENST00000525271.1:c.1999T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436348
  ensembl transcript: ENST00000527411
  gene symbol: EPB41L2
  hgvsc: ENST00000527411.1:c.2785T>C
  hgvsp: ENST00000527411.1:c.2785T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000431647
  ensembl transcript: ENST00000527659
  gene symbol: EPB41L2
  hgvsc: ENST00000527659.1:c.2413T>C
  hgvsp: ENST00000527659.1:c.2413T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000402041
  ensembl transcript: ENST00000445890
  gene symbol: EPB41L2
  hgvsc: ENST00000445890.2:c.2221T>C
  hgvsp: ENST00000445890.2:c.2221T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434308
  ensembl transcript: ENST00000528282
  gene symbol: EPB41L2
  hgvsc: ENST00000528282.1:c.2221T>C
  hgvsp: ENST00000528282.1:c.2221T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000376222
  ensembl transcript: ENST00000392427
  gene symbol: EPB41L2
  hgvsc: ENST00000392427.3:c.1999T>C
  hgvsp: ENST00000392427.3:c.1999T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000452150
  gene symbol: EPB41L2
  hgvsc: ENST00000452150.2:n.1714T>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436641
  ensembl transcript: ENST00000529208
  gene symbol: EPB41L2
  hgvsc: ENST00000529208.1:c.2785T>C
  hgvsp: ENST00000529208.1:c.2785T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000368126
  gene symbol: EPB41L2
  hgvsc: ENST00000368126.2:n.464T>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000526782
  gene symbol: EPB41L2
  hgvsc: ENST00000526782.1:n.170T>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436349
  ensembl transcript: ENST00000530757
  gene symbol: EPB41L2
  hgvsc: ENST00000530757.1:c.583T>C
  hgvsp: ENST00000530757.1:c.583T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434596
  ensembl transcript: ENST00000531410
  gene symbol: EPB41L2
  hgvsc: ENST00000531410.1:c.358T>C
  hgvsp: ENST00000531410.1:c.358T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000357110
  ensembl transcript: ENST00000368128
  gene symbol: EPB41L2
  hgvsc: ENST00000368128.2:c.2995T>C
  hgvsp: ENST00000368128.2:c.2995T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434576
  ensembl transcript: ENST00000530481
  gene symbol: EPB41L2
  hgvsc: ENST00000530481.1:c.2536T>C
  hgvsp: ENST00000530481.1:c.2536T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4845
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu999Leu
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: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

6-131179302-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131179302
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131179302
    reference: chr 6
allele count: 4151
allele frequency: 3.419500461315408e-2
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000452150
  gene symbol: EPB41L2
  hgvsc: ENST00000452150.2:n.1711G>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434308
  ensembl transcript: ENST00000528282
  gene symbol: EPB41L2
  hgvsc: ENST00000528282.1:c.2218G>C
  hgvsp: ENSP00000434308.1:p.Glu740Gln
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434596
  ensembl transcript: ENST00000531410
  gene symbol: EPB41L2
  hgvsc: ENST00000531410.1:c.355G>C
  hgvsp: ENSP00000434596.1:p.Glu119Gln
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000432803
  ensembl transcript: ENST00000525271
  gene symbol: EPB41L2
  hgvsc: ENST00000525271.1:c.1996G>C
  hgvsp: ENSP00000432803.1:p.Glu666Gln
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000526782
  gene symbol: EPB41L2
  hgvsc: ENST00000526782.1:n.167G>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000338481
  ensembl transcript: ENST00000337057
  gene symbol: EPB41L2
  hgvsc: ENST00000337057.3:c.2992G>C
  hgvsp: ENSP00000338481.3:p.Glu998Gln
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000402041
  ensembl transcript: ENST00000445890
  gene symbol: EPB41L2
  hgvsc: ENST00000445890.2:c.2218G>C
  hgvsp: ENSP00000402041.2:p.Glu740Gln
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436641
  ensembl transcript: ENST00000529208
  gene symbol: EPB41L2
  hgvsc: ENST00000529208.1:c.2782G>C
  hgvsp: ENSP00000436641.1:p.Glu928Gln
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000437207
  ensembl transcript: ENST00000524581
  gene symbol: EPB41L2
  hgvsc: ENST00000524581.1:c.1126G>C
  hgvsp: ENSP00000437207.1:p.Glu376Gln
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434576
  ensembl transcript: ENST00000530481
  gene symbol: EPB41L2
  hgvsc: ENST00000530481.1:c.2533G>C
  hgvsp: ENSP00000434576.1:p.Glu845Gln
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436348
  ensembl transcript: ENST00000527411
  gene symbol: EPB41L2
  hgvsc: ENST00000527411.1:c.2782G>C
  hgvsp: ENSP00000436348.1:p.Glu928Gln
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000368126
  gene symbol: EPB41L2
  hgvsc: ENST00000368126.2:n.461G>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000431647
  ensembl transcript: ENST00000527659
  gene symbol: EPB41L2
  hgvsc: ENST00000527659.1:c.2410G>C
  hgvsp: ENSP00000431647.1:p.Glu804Gln
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000376222
  ensembl transcript: ENST00000392427
  gene symbol: EPB41L2
  hgvsc: ENST00000392427.3:c.1996G>C
  hgvsp: ENSP00000376222.3:p.Glu666Gln
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436349
  ensembl transcript: ENST00000530757
  gene symbol: EPB41L2
  hgvsc: ENST00000530757.1:c.580G>C
  hgvsp: ENSP00000436349.1:p.Glu194Gln
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000431988
  ensembl transcript: ENST00000525193
  gene symbol: EPB41L2
  hgvsc: ENST00000525193.1:c.2095G>C
  hgvsp: ENSP00000431988.1:p.Glu699Gln
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000357110
  ensembl transcript: ENST00000368128
  gene symbol: EPB41L2
  hgvsc: ENST00000368128.2:c.2992G>C
  hgvsp: ENSP00000357110.2:p.Glu998Gln
  variant of: http://identifiers.org/hgnc/3379
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 8.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
hgvs: p.Glu998Gln
num of homozygotes: 129
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

6-131179321-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131179321
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131179321
    reference: chr 6
allele count: 2
allele frequency: 1.648641519388024e-5
allele num: 121312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000431647
  ensembl transcript: ENST00000527659
  gene symbol: EPB41L2
  hgvsc: ENST00000527659.1:c.2391G>A
  hgvsp: ENST00000527659.1:c.2391G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434576
  ensembl transcript: ENST00000530481
  gene symbol: EPB41L2
  hgvsc: ENST00000530481.1:c.2514G>A
  hgvsp: ENST00000530481.1:c.2514G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434308
  ensembl transcript: ENST00000528282
  gene symbol: EPB41L2
  hgvsc: ENST00000528282.1:c.2199G>A
  hgvsp: ENST00000528282.1:c.2199G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000432803
  ensembl transcript: ENST00000525271
  gene symbol: EPB41L2
  hgvsc: ENST00000525271.1:c.1977G>A
  hgvsp: ENST00000525271.1:c.1977G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000376222
  ensembl transcript: ENST00000392427
  gene symbol: EPB41L2
  hgvsc: ENST00000392427.3:c.1977G>A
  hgvsp: ENST00000392427.3:c.1977G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436348
  ensembl transcript: ENST00000527411
  gene symbol: EPB41L2
  hgvsc: ENST00000527411.1:c.2763G>A
  hgvsp: ENST00000527411.1:c.2763G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000357110
  ensembl transcript: ENST00000368128
  gene symbol: EPB41L2
  hgvsc: ENST00000368128.2:c.2973G>A
  hgvsp: ENST00000368128.2:c.2973G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000526782
  gene symbol: EPB41L2
  hgvsc: ENST00000526782.1:n.148G>A
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000452150
  gene symbol: EPB41L2
  hgvsc: ENST00000452150.2:n.1692G>A
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434596
  ensembl transcript: ENST00000531410
  gene symbol: EPB41L2
  hgvsc: ENST00000531410.1:c.336G>A
  hgvsp: ENST00000531410.1:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436349
  ensembl transcript: ENST00000530757
  gene symbol: EPB41L2
  hgvsc: ENST00000530757.1:c.561G>A
  hgvsp: ENST00000530757.1:c.561G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436641
  ensembl transcript: ENST00000529208
  gene symbol: EPB41L2
  hgvsc: ENST00000529208.1:c.2763G>A
  hgvsp: ENST00000529208.1:c.2763G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000437207
  ensembl transcript: ENST00000524581
  gene symbol: EPB41L2
  hgvsc: ENST00000524581.1:c.1107G>A
  hgvsp: ENST00000524581.1:c.1107G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000431988
  ensembl transcript: ENST00000525193
  gene symbol: EPB41L2
  hgvsc: ENST00000525193.1:c.2076G>A
  hgvsp: ENST00000525193.1:c.2076G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000368126
  gene symbol: EPB41L2
  hgvsc: ENST00000368126.2:n.442G>A
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000338481
  ensembl transcript: ENST00000337057
  gene symbol: EPB41L2
  hgvsc: ENST00000337057.3:c.2973G>A
  hgvsp: ENST00000337057.3:c.2973G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000402041
  ensembl transcript: ENST00000445890
  gene symbol: EPB41L2
  hgvsc: ENST00000445890.2:c.2199G>A
  hgvsp: ENST00000445890.2:c.2199G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val991Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/6-131179333-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131179333
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131179333
    reference: chr 6
allele count: 1
allele frequency: 8.255456856982466e-6
allele num: 121132
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000431988
  ensembl transcript: ENST00000525193
  gene symbol: EPB41L2
  hgvsc: ENST00000525193.1:c.2064G>T
  hgvsp: ENST00000525193.1:c.2064G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000368126
  gene symbol: EPB41L2
  hgvsc: ENST00000368126.2:n.430G>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000437207
  ensembl transcript: ENST00000524581
  gene symbol: EPB41L2
  hgvsc: ENST00000524581.1:c.1095G>T
  hgvsp: ENST00000524581.1:c.1095G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000357110
  ensembl transcript: ENST00000368128
  gene symbol: EPB41L2
  hgvsc: ENST00000368128.2:c.2961G>T
  hgvsp: ENST00000368128.2:c.2961G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000431647
  ensembl transcript: ENST00000527659
  gene symbol: EPB41L2
  hgvsc: ENST00000527659.1:c.2379G>T
  hgvsp: ENST00000527659.1:c.2379G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436641
  ensembl transcript: ENST00000529208
  gene symbol: EPB41L2
  hgvsc: ENST00000529208.1:c.2751G>T
  hgvsp: ENST00000529208.1:c.2751G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436348
  ensembl transcript: ENST00000527411
  gene symbol: EPB41L2
  hgvsc: ENST00000527411.1:c.2751G>T
  hgvsp: ENST00000527411.1:c.2751G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434596
  ensembl transcript: ENST00000531410
  gene symbol: EPB41L2
  hgvsc: ENST00000531410.1:c.324G>T
  hgvsp: ENST00000531410.1:c.324G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000376222
  ensembl transcript: ENST00000392427
  gene symbol: EPB41L2
  hgvsc: ENST00000392427.3:c.1965G>T
  hgvsp: ENST00000392427.3:c.1965G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000402041
  ensembl transcript: ENST00000445890
  gene symbol: EPB41L2
  hgvsc: ENST00000445890.2:c.2187G>T
  hgvsp: ENST00000445890.2:c.2187G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000338481
  ensembl transcript: ENST00000337057
  gene symbol: EPB41L2
  hgvsc: ENST00000337057.3:c.2961G>T
  hgvsp: ENST00000337057.3:c.2961G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000432803
  ensembl transcript: ENST00000525271
  gene symbol: EPB41L2
  hgvsc: ENST00000525271.1:c.1965G>T
  hgvsp: ENST00000525271.1:c.1965G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000452150
  gene symbol: EPB41L2
  hgvsc: ENST00000452150.2:n.1680G>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434308
  ensembl transcript: ENST00000528282
  gene symbol: EPB41L2
  hgvsc: ENST00000528282.1:c.2187G>T
  hgvsp: ENST00000528282.1:c.2187G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000526782
  gene symbol: EPB41L2
  hgvsc: ENST00000526782.1:n.136G>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436349
  ensembl transcript: ENST00000530757
  gene symbol: EPB41L2
  hgvsc: ENST00000530757.1:c.549G>T
  hgvsp: ENST00000530757.1:c.549G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434576
  ensembl transcript: ENST00000530481
  gene symbol: EPB41L2
  hgvsc: ENST00000530481.1:c.2502G>T
  hgvsp: ENST00000530481.1:c.2502G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6318
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6519
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser987Ser
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

6-131179333-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131179333
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131179333
    reference: chr 6
allele count: 3
allele frequency: 2.476637057094739e-5
allele num: 121132
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434308
  ensembl transcript: ENST00000528282
  gene symbol: EPB41L2
  hgvsc: ENST00000528282.1:c.2187G>A
  hgvsp: ENST00000528282.1:c.2187G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000402041
  ensembl transcript: ENST00000445890
  gene symbol: EPB41L2
  hgvsc: ENST00000445890.2:c.2187G>A
  hgvsp: ENST00000445890.2:c.2187G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000437207
  ensembl transcript: ENST00000524581
  gene symbol: EPB41L2
  hgvsc: ENST00000524581.1:c.1095G>A
  hgvsp: ENST00000524581.1:c.1095G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436641
  ensembl transcript: ENST00000529208
  gene symbol: EPB41L2
  hgvsc: ENST00000529208.1:c.2751G>A
  hgvsp: ENST00000529208.1:c.2751G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000432803
  ensembl transcript: ENST00000525271
  gene symbol: EPB41L2
  hgvsc: ENST00000525271.1:c.1965G>A
  hgvsp: ENST00000525271.1:c.1965G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436348
  ensembl transcript: ENST00000527411
  gene symbol: EPB41L2
  hgvsc: ENST00000527411.1:c.2751G>A
  hgvsp: ENST00000527411.1:c.2751G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000452150
  gene symbol: EPB41L2
  hgvsc: ENST00000452150.2:n.1680G>A
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000526782
  gene symbol: EPB41L2
  hgvsc: ENST00000526782.1:n.136G>A
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434576
  ensembl transcript: ENST00000530481
  gene symbol: EPB41L2
  hgvsc: ENST00000530481.1:c.2502G>A
  hgvsp: ENST00000530481.1:c.2502G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000357110
  ensembl transcript: ENST00000368128
  gene symbol: EPB41L2
  hgvsc: ENST00000368128.2:c.2961G>A
  hgvsp: ENST00000368128.2:c.2961G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000376222
  ensembl transcript: ENST00000392427
  gene symbol: EPB41L2
  hgvsc: ENST00000392427.3:c.1965G>A
  hgvsp: ENST00000392427.3:c.1965G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000431988
  ensembl transcript: ENST00000525193
  gene symbol: EPB41L2
  hgvsc: ENST00000525193.1:c.2064G>A
  hgvsp: ENST00000525193.1:c.2064G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436349
  ensembl transcript: ENST00000530757
  gene symbol: EPB41L2
  hgvsc: ENST00000530757.1:c.549G>A
  hgvsp: ENST00000530757.1:c.549G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000431647
  ensembl transcript: ENST00000527659
  gene symbol: EPB41L2
  hgvsc: ENST00000527659.1:c.2379G>A
  hgvsp: ENST00000527659.1:c.2379G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000368126
  gene symbol: EPB41L2
  hgvsc: ENST00000368126.2:n.430G>A
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434596
  ensembl transcript: ENST00000531410
  gene symbol: EPB41L2
  hgvsc: ENST00000531410.1:c.324G>A
  hgvsp: ENST00000531410.1:c.324G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000338481
  ensembl transcript: ENST00000337057
  gene symbol: EPB41L2
  hgvsc: ENST00000337057.3:c.2961G>A
  hgvsp: ENST00000337057.3:c.2961G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3978
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser987Ser
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD

6-131179334-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131179334
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131179334
    reference: chr 6
allele count: 1
allele frequency: 8.258320257659592e-6
allele num: 121090
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434308
  ensembl transcript: ENST00000528282
  gene symbol: EPB41L2
  hgvsc: ENST00000528282.1:c.2186C>T
  hgvsp: ENSP00000434308.1:p.Ser729Leu
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000431647
  ensembl transcript: ENST00000527659
  gene symbol: EPB41L2
  hgvsc: ENST00000527659.1:c.2378C>T
  hgvsp: ENSP00000431647.1:p.Ser793Leu
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436641
  ensembl transcript: ENST00000529208
  gene symbol: EPB41L2
  hgvsc: ENST00000529208.1:c.2750C>T
  hgvsp: ENSP00000436641.1:p.Ser917Leu
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000431988
  ensembl transcript: ENST00000525193
  gene symbol: EPB41L2
  hgvsc: ENST00000525193.1:c.2063C>T
  hgvsp: ENSP00000431988.1:p.Ser688Leu
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000402041
  ensembl transcript: ENST00000445890
  gene symbol: EPB41L2
  hgvsc: ENST00000445890.2:c.2186C>T
  hgvsp: ENSP00000402041.2:p.Ser729Leu
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434576
  ensembl transcript: ENST00000530481
  gene symbol: EPB41L2
  hgvsc: ENST00000530481.1:c.2501C>T
  hgvsp: ENSP00000434576.1:p.Ser834Leu
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434596
  ensembl transcript: ENST00000531410
  gene symbol: EPB41L2
  hgvsc: ENST00000531410.1:c.323C>T
  hgvsp: ENSP00000434596.1:p.Ser108Leu
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000357110
  ensembl transcript: ENST00000368128
  gene symbol: EPB41L2
  hgvsc: ENST00000368128.2:c.2960C>T
  hgvsp: ENSP00000357110.2:p.Ser987Leu
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000437207
  ensembl transcript: ENST00000524581
  gene symbol: EPB41L2
  hgvsc: ENST00000524581.1:c.1094C>T
  hgvsp: ENSP00000437207.1:p.Ser365Leu
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436348
  ensembl transcript: ENST00000527411
  gene symbol: EPB41L2
  hgvsc: ENST00000527411.1:c.2750C>T
  hgvsp: ENSP00000436348.1:p.Ser917Leu
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000432803
  ensembl transcript: ENST00000525271
  gene symbol: EPB41L2
  hgvsc: ENST00000525271.1:c.1964C>T
  hgvsp: ENSP00000432803.1:p.Ser655Leu
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000452150
  gene symbol: EPB41L2
  hgvsc: ENST00000452150.2:n.1679C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000338481
  ensembl transcript: ENST00000337057
  gene symbol: EPB41L2
  hgvsc: ENST00000337057.3:c.2960C>T
  hgvsp: ENSP00000338481.3:p.Ser987Leu
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000368126
  gene symbol: EPB41L2
  hgvsc: ENST00000368126.2:n.429C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000526782
  gene symbol: EPB41L2
  hgvsc: ENST00000526782.1:n.135C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000376222
  ensembl transcript: ENST00000392427
  gene symbol: EPB41L2
  hgvsc: ENST00000392427.3:c.1964C>T
  hgvsp: ENSP00000376222.3:p.Ser655Leu
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436349
  ensembl transcript: ENST00000530757
  gene symbol: EPB41L2
  hgvsc: ENST00000530757.1:c.548C>T
  hgvsp: ENSP00000436349.1:p.Ser183Leu
  variant of: http://identifiers.org/hgnc/3379
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser987Leu
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

6-131179338-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131179338
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131179338
    reference: chr 6
allele count: 2
allele frequency: 1.653493832468005e-5
allele num: 120956
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000376222
  ensembl transcript: ENST00000392427
  gene symbol: EPB41L2
  hgvsc: ENST00000392427.3:c.1960A>C
  hgvsp: ENSP00000376222.3:p.Met654Leu
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000338481
  ensembl transcript: ENST00000337057
  gene symbol: EPB41L2
  hgvsc: ENST00000337057.3:c.2956A>C
  hgvsp: ENSP00000338481.3:p.Met986Leu
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434596
  ensembl transcript: ENST00000531410
  gene symbol: EPB41L2
  hgvsc: ENST00000531410.1:c.319A>C
  hgvsp: ENSP00000434596.1:p.Met107Leu
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000431988
  ensembl transcript: ENST00000525193
  gene symbol: EPB41L2
  hgvsc: ENST00000525193.1:c.2059A>C
  hgvsp: ENSP00000431988.1:p.Met687Leu
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434576
  ensembl transcript: ENST00000530481
  gene symbol: EPB41L2
  hgvsc: ENST00000530481.1:c.2497A>C
  hgvsp: ENSP00000434576.1:p.Met833Leu
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000357110
  ensembl transcript: ENST00000368128
  gene symbol: EPB41L2
  hgvsc: ENST00000368128.2:c.2956A>C
  hgvsp: ENSP00000357110.2:p.Met986Leu
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436349
  ensembl transcript: ENST00000530757
  gene symbol: EPB41L2
  hgvsc: ENST00000530757.1:c.544A>C
  hgvsp: ENSP00000436349.1:p.Met182Leu
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000402041
  ensembl transcript: ENST00000445890
  gene symbol: EPB41L2
  hgvsc: ENST00000445890.2:c.2182A>C
  hgvsp: ENSP00000402041.2:p.Met728Leu
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434308
  ensembl transcript: ENST00000528282
  gene symbol: EPB41L2
  hgvsc: ENST00000528282.1:c.2182A>C
  hgvsp: ENSP00000434308.1:p.Met728Leu
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000526782
  gene symbol: EPB41L2
  hgvsc: ENST00000526782.1:n.131A>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000437207
  ensembl transcript: ENST00000524581
  gene symbol: EPB41L2
  hgvsc: ENST00000524581.1:c.1090A>C
  hgvsp: ENSP00000437207.1:p.Met364Leu
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436348
  ensembl transcript: ENST00000527411
  gene symbol: EPB41L2
  hgvsc: ENST00000527411.1:c.2746A>C
  hgvsp: ENSP00000436348.1:p.Met916Leu
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000432803
  ensembl transcript: ENST00000525271
  gene symbol: EPB41L2
  hgvsc: ENST00000525271.1:c.1960A>C
  hgvsp: ENSP00000432803.1:p.Met654Leu
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000431647
  ensembl transcript: ENST00000527659
  gene symbol: EPB41L2
  hgvsc: ENST00000527659.1:c.2374A>C
  hgvsp: ENSP00000431647.1:p.Met792Leu
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000368126
  gene symbol: EPB41L2
  hgvsc: ENST00000368126.2:n.425A>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000452150
  gene symbol: EPB41L2
  hgvsc: ENST00000452150.2:n.1675A>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436641
  ensembl transcript: ENST00000529208
  gene symbol: EPB41L2
  hgvsc: ENST00000529208.1:c.2746A>C
  hgvsp: ENSP00000436641.1:p.Met916Leu
  variant of: http://identifiers.org/hgnc/3379
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6318
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3988
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met986Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

6-131179350-GCT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131179350
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131179348
    reference: chr 6
allele count: 5
allele frequency: 4.15254800345492e-5
allele num: 120408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000437207
  ensembl transcript: ENST00000524581
  gene symbol: EPB41L2
  hgvsc: ENST00000524581.1:c.1076_1077delAG
  hgvsp: ENSP00000437207.1:p.Glu359AlafsTer4
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436348
  ensembl transcript: ENST00000527411
  gene symbol: EPB41L2
  hgvsc: ENST00000527411.1:c.2732_2733delAG
  hgvsp: ENSP00000436348.1:p.Glu911AlafsTer4
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000432803
  ensembl transcript: ENST00000525271
  gene symbol: EPB41L2
  hgvsc: ENST00000525271.1:c.1946_1947delAG
  hgvsp: ENSP00000432803.1:p.Glu649AlafsTer4
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436641
  ensembl transcript: ENST00000529208
  gene symbol: EPB41L2
  hgvsc: ENST00000529208.1:c.2732_2733delAG
  hgvsp: ENSP00000436641.1:p.Glu911AlafsTer4
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000526782
  gene symbol: EPB41L2
  hgvsc: ENST00000526782.1:n.117_118delAG
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000368126
  gene symbol: EPB41L2
  hgvsc: ENST00000368126.2:n.411_412delAG
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000431647
  ensembl transcript: ENST00000527659
  gene symbol: EPB41L2
  hgvsc: ENST00000527659.1:c.2360_2361delAG
  hgvsp: ENSP00000431647.1:p.Glu787AlafsTer4
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000338481
  ensembl transcript: ENST00000337057
  gene symbol: EPB41L2
  hgvsc: ENST00000337057.3:c.2942_2943delAG
  hgvsp: ENSP00000338481.3:p.Glu981AlafsTer4
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000402041
  ensembl transcript: ENST00000445890
  gene symbol: EPB41L2
  hgvsc: ENST00000445890.2:c.2168_2169delAG
  hgvsp: ENSP00000402041.2:p.Glu723AlafsTer4
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000357110
  ensembl transcript: ENST00000368128
  gene symbol: EPB41L2
  hgvsc: ENST00000368128.2:c.2942_2943delAG
  hgvsp: ENSP00000357110.2:p.Glu981AlafsTer4
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434308
  ensembl transcript: ENST00000528282
  gene symbol: EPB41L2
  hgvsc: ENST00000528282.1:c.2168_2169delAG
  hgvsp: ENSP00000434308.1:p.Glu723AlafsTer4
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434576
  ensembl transcript: ENST00000530481
  gene symbol: EPB41L2
  hgvsc: ENST00000530481.1:c.2483_2484delAG
  hgvsp: ENSP00000434576.1:p.Glu828AlafsTer4
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000376222
  ensembl transcript: ENST00000392427
  gene symbol: EPB41L2
  hgvsc: ENST00000392427.3:c.1946_1947delAG
  hgvsp: ENSP00000376222.3:p.Glu649AlafsTer4
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000452150
  gene symbol: EPB41L2
  hgvsc: ENST00000452150.2:n.1661_1662delAG
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436349
  ensembl transcript: ENST00000530757
  gene symbol: EPB41L2
  hgvsc: ENST00000530757.1:c.530_531delAG
  hgvsp: ENSP00000436349.1:p.Glu177AlafsTer4
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434596
  ensembl transcript: ENST00000531410
  gene symbol: EPB41L2
  hgvsc: ENST00000531410.1:c.305_306delAG
  hgvsp: ENSP00000434596.1:p.Glu102AlafsTer4
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000431988
  ensembl transcript: ENST00000525193
  gene symbol: EPB41L2
  hgvsc: ENST00000525193.1:c.2045_2046delAG
  hgvsp: ENSP00000431988.1:p.Glu682AlafsTer4
  variant of: http://identifiers.org/hgnc/3379
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu981AlafsTer4
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: GCT
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

6-131179369-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131179369
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131179369
    reference: chr 6
allele count: 22
allele frequency: 1.850761335913182e-4
allele num: 118870
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000431988
  ensembl transcript: ENST00000525193
  gene symbol: EPB41L2
  hgvsc: ENST00000525193.1:c.2028G>A
  hgvsp: ENST00000525193.1:c.2028G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434596
  ensembl transcript: ENST00000531410
  gene symbol: EPB41L2
  hgvsc: ENST00000531410.1:c.288G>A
  hgvsp: ENST00000531410.1:c.288G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434576
  ensembl transcript: ENST00000530481
  gene symbol: EPB41L2
  hgvsc: ENST00000530481.1:c.2466G>A
  hgvsp: ENST00000530481.1:c.2466G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434308
  ensembl transcript: ENST00000528282
  gene symbol: EPB41L2
  hgvsc: ENST00000528282.1:c.2151G>A
  hgvsp: ENST00000528282.1:c.2151G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000431647
  ensembl transcript: ENST00000527659
  gene symbol: EPB41L2
  hgvsc: ENST00000527659.1:c.2343G>A
  hgvsp: ENST00000527659.1:c.2343G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000376222
  ensembl transcript: ENST00000392427
  gene symbol: EPB41L2
  hgvsc: ENST00000392427.3:c.1929G>A
  hgvsp: ENST00000392427.3:c.1929G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436349
  ensembl transcript: ENST00000530757
  gene symbol: EPB41L2
  hgvsc: ENST00000530757.1:c.513G>A
  hgvsp: ENST00000530757.1:c.513G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000357110
  ensembl transcript: ENST00000368128
  gene symbol: EPB41L2
  hgvsc: ENST00000368128.2:c.2925G>A
  hgvsp: ENST00000368128.2:c.2925G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000432803
  ensembl transcript: ENST00000525271
  gene symbol: EPB41L2
  hgvsc: ENST00000525271.1:c.1929G>A
  hgvsp: ENST00000525271.1:c.1929G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000437207
  ensembl transcript: ENST00000524581
  gene symbol: EPB41L2
  hgvsc: ENST00000524581.1:c.1059G>A
  hgvsp: ENST00000524581.1:c.1059G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000526782
  gene symbol: EPB41L2
  hgvsc: ENST00000526782.1:n.100G>A
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000452150
  gene symbol: EPB41L2
  hgvsc: ENST00000452150.2:n.1644G>A
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436348
  ensembl transcript: ENST00000527411
  gene symbol: EPB41L2
  hgvsc: ENST00000527411.1:c.2715G>A
  hgvsp: ENST00000527411.1:c.2715G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000432949
  ensembl transcript: ENST00000527017
  gene symbol: EPB41L2
  hgvsc: ENST00000527017.2:c.717G>A
  hgvsp: ENST00000527017.2:c.717G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000338481
  ensembl transcript: ENST00000337057
  gene symbol: EPB41L2
  hgvsc: ENST00000337057.3:c.2925G>A
  hgvsp: ENST00000337057.3:c.2925G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000402041
  ensembl transcript: ENST00000445890
  gene symbol: EPB41L2
  hgvsc: ENST00000445890.2:c.2151G>A
  hgvsp: ENST00000445890.2:c.2151G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000368126
  gene symbol: EPB41L2
  hgvsc: ENST00000368126.2:n.394G>A
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436641
  ensembl transcript: ENST00000529208
  gene symbol: EPB41L2
  hgvsc: ENST00000529208.1:c.2715G>A
  hgvsp: ENST00000529208.1:c.2715G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
hgvs: p.Ala975Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum

6-131179370-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131179370
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131179370
    reference: chr 6
allele count: 2
allele frequency: 1.685317513819604e-5
allele num: 118672
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434596
  ensembl transcript: ENST00000531410
  gene symbol: EPB41L2
  hgvsc: ENST00000531410.1:c.287C>T
  hgvsp: ENSP00000434596.1:p.Ala96Val
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000431988
  ensembl transcript: ENST00000525193
  gene symbol: EPB41L2
  hgvsc: ENST00000525193.1:c.2027C>T
  hgvsp: ENSP00000431988.1:p.Ala676Val
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000437207
  ensembl transcript: ENST00000524581
  gene symbol: EPB41L2
  hgvsc: ENST00000524581.1:c.1058C>T
  hgvsp: ENSP00000437207.1:p.Ala353Val
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000376222
  ensembl transcript: ENST00000392427
  gene symbol: EPB41L2
  hgvsc: ENST00000392427.3:c.1928C>T
  hgvsp: ENSP00000376222.3:p.Ala643Val
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434576
  ensembl transcript: ENST00000530481
  gene symbol: EPB41L2
  hgvsc: ENST00000530481.1:c.2465C>T
  hgvsp: ENSP00000434576.1:p.Ala822Val
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000338481
  ensembl transcript: ENST00000337057
  gene symbol: EPB41L2
  hgvsc: ENST00000337057.3:c.2924C>T
  hgvsp: ENSP00000338481.3:p.Ala975Val
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000432803
  ensembl transcript: ENST00000525271
  gene symbol: EPB41L2
  hgvsc: ENST00000525271.1:c.1928C>T
  hgvsp: ENSP00000432803.1:p.Ala643Val
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000357110
  ensembl transcript: ENST00000368128
  gene symbol: EPB41L2
  hgvsc: ENST00000368128.2:c.2924C>T
  hgvsp: ENSP00000357110.2:p.Ala975Val
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434308
  ensembl transcript: ENST00000528282
  gene symbol: EPB41L2
  hgvsc: ENST00000528282.1:c.2150C>T
  hgvsp: ENSP00000434308.1:p.Ala717Val
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000402041
  ensembl transcript: ENST00000445890
  gene symbol: EPB41L2
  hgvsc: ENST00000445890.2:c.2150C>T
  hgvsp: ENSP00000402041.2:p.Ala717Val
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436348
  ensembl transcript: ENST00000527411
  gene symbol: EPB41L2
  hgvsc: ENST00000527411.1:c.2714C>T
  hgvsp: ENSP00000436348.1:p.Ala905Val
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000526782
  gene symbol: EPB41L2
  hgvsc: ENST00000526782.1:n.99C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000432949
  ensembl transcript: ENST00000527017
  gene symbol: EPB41L2
  hgvsc: ENST00000527017.2:c.716C>T
  hgvsp: ENSP00000432949.1:p.Ala239Val
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000368126
  gene symbol: EPB41L2
  hgvsc: ENST00000368126.2:n.393C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436641
  ensembl transcript: ENST00000529208
  gene symbol: EPB41L2
  hgvsc: ENST00000529208.1:c.2714C>T
  hgvsp: ENSP00000436641.1:p.Ala905Val
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000452150
  gene symbol: EPB41L2
  hgvsc: ENST00000452150.2:n.1643C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436349
  ensembl transcript: ENST00000530757
  gene symbol: EPB41L2
  hgvsc: ENST00000530757.1:c.512C>T
  hgvsp: ENSP00000436349.1:p.Ala171Val
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000431647
  ensembl transcript: ENST00000527659
  gene symbol: EPB41L2
  hgvsc: ENST00000527659.1:c.2342C>T
  hgvsp: ENSP00000431647.1:p.Ala781Val
  variant of: http://identifiers.org/hgnc/3379
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala975Val
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

6-131179380-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131179380
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131179380
    reference: chr 6
allele count: 1
allele frequency: 8.489540885628905e-6
allele num: 117792
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000431647
  ensembl transcript: ENST00000527659
  gene symbol: EPB41L2
  hgvsc: ENST00000527659.1:c.2332C>T
  hgvsp: ENST00000527659.1:c.2332C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436349
  ensembl transcript: ENST00000530757
  gene symbol: EPB41L2
  hgvsc: ENST00000530757.1:c.502C>T
  hgvsp: ENST00000530757.1:c.502C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000357110
  ensembl transcript: ENST00000368128
  gene symbol: EPB41L2
  hgvsc: ENST00000368128.2:c.2914C>T
  hgvsp: ENST00000368128.2:c.2914C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434308
  ensembl transcript: ENST00000528282
  gene symbol: EPB41L2
  hgvsc: ENST00000528282.1:c.2140C>T
  hgvsp: ENST00000528282.1:c.2140C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434576
  ensembl transcript: ENST00000530481
  gene symbol: EPB41L2
  hgvsc: ENST00000530481.1:c.2455C>T
  hgvsp: ENST00000530481.1:c.2455C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434596
  ensembl transcript: ENST00000531410
  gene symbol: EPB41L2
  hgvsc: ENST00000531410.1:c.277C>T
  hgvsp: ENST00000531410.1:c.277C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000402041
  ensembl transcript: ENST00000445890
  gene symbol: EPB41L2
  hgvsc: ENST00000445890.2:c.2140C>T
  hgvsp: ENST00000445890.2:c.2140C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000437207
  ensembl transcript: ENST00000524581
  gene symbol: EPB41L2
  hgvsc: ENST00000524581.1:c.1048C>T
  hgvsp: ENST00000524581.1:c.1048C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436348
  ensembl transcript: ENST00000527411
  gene symbol: EPB41L2
  hgvsc: ENST00000527411.1:c.2704C>T
  hgvsp: ENST00000527411.1:c.2704C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000431988
  ensembl transcript: ENST00000525193
  gene symbol: EPB41L2
  hgvsc: ENST00000525193.1:c.2017C>T
  hgvsp: ENST00000525193.1:c.2017C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000432949
  ensembl transcript: ENST00000527017
  gene symbol: EPB41L2
  hgvsc: ENST00000527017.2:c.706C>T
  hgvsp: ENST00000527017.2:c.706C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000376222
  ensembl transcript: ENST00000392427
  gene symbol: EPB41L2
  hgvsc: ENST00000392427.3:c.1918C>T
  hgvsp: ENST00000392427.3:c.1918C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000338481
  ensembl transcript: ENST00000337057
  gene symbol: EPB41L2
  hgvsc: ENST00000337057.3:c.2914C>T
  hgvsp: ENST00000337057.3:c.2914C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000526782
  gene symbol: EPB41L2
  hgvsc: ENST00000526782.1:n.89C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000452150
  gene symbol: EPB41L2
  hgvsc: ENST00000452150.2:n.1633C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436641
  ensembl transcript: ENST00000529208
  gene symbol: EPB41L2
  hgvsc: ENST00000529208.1:c.2704C>T
  hgvsp: ENST00000529208.1:c.2704C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000432803
  ensembl transcript: ENST00000525271
  gene symbol: EPB41L2
  hgvsc: ENST00000525271.1:c.1918C>T
  hgvsp: ENST00000525271.1:c.1918C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000368126
  gene symbol: EPB41L2
  hgvsc: ENST00000368126.2:n.383C>T
  variant of: http://identifiers.org/hgnc/3379
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5372
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu972Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

6-131179381-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131179381
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131179381
    reference: chr 6
allele count: 20
allele frequency: 1.698081168279844e-4
allele num: 117780
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000338481
  ensembl transcript: ENST00000337057
  gene symbol: EPB41L2
  hgvsc: ENST00000337057.3:c.2913A>G
  hgvsp: ENST00000337057.3:c.2913A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434308
  ensembl transcript: ENST00000528282
  gene symbol: EPB41L2
  hgvsc: ENST00000528282.1:c.2139A>G
  hgvsp: ENST00000528282.1:c.2139A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000376222
  ensembl transcript: ENST00000392427
  gene symbol: EPB41L2
  hgvsc: ENST00000392427.3:c.1917A>G
  hgvsp: ENST00000392427.3:c.1917A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000357110
  ensembl transcript: ENST00000368128
  gene symbol: EPB41L2
  hgvsc: ENST00000368128.2:c.2913A>G
  hgvsp: ENST00000368128.2:c.2913A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000437207
  ensembl transcript: ENST00000524581
  gene symbol: EPB41L2
  hgvsc: ENST00000524581.1:c.1047A>G
  hgvsp: ENST00000524581.1:c.1047A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000402041
  ensembl transcript: ENST00000445890
  gene symbol: EPB41L2
  hgvsc: ENST00000445890.2:c.2139A>G
  hgvsp: ENST00000445890.2:c.2139A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000368126
  gene symbol: EPB41L2
  hgvsc: ENST00000368126.2:n.382A>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000431988
  ensembl transcript: ENST00000525193
  gene symbol: EPB41L2
  hgvsc: ENST00000525193.1:c.2016A>G
  hgvsp: ENST00000525193.1:c.2016A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000432949
  ensembl transcript: ENST00000527017
  gene symbol: EPB41L2
  hgvsc: ENST00000527017.2:c.705A>G
  hgvsp: ENST00000527017.2:c.705A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434576
  ensembl transcript: ENST00000530481
  gene symbol: EPB41L2
  hgvsc: ENST00000530481.1:c.2454A>G
  hgvsp: ENST00000530481.1:c.2454A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436348
  ensembl transcript: ENST00000527411
  gene symbol: EPB41L2
  hgvsc: ENST00000527411.1:c.2703A>G
  hgvsp: ENST00000527411.1:c.2703A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000432803
  ensembl transcript: ENST00000525271
  gene symbol: EPB41L2
  hgvsc: ENST00000525271.1:c.1917A>G
  hgvsp: ENST00000525271.1:c.1917A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000431647
  ensembl transcript: ENST00000527659
  gene symbol: EPB41L2
  hgvsc: ENST00000527659.1:c.2331A>G
  hgvsp: ENST00000527659.1:c.2331A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000452150
  gene symbol: EPB41L2
  hgvsc: ENST00000452150.2:n.1632A>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436641
  ensembl transcript: ENST00000529208
  gene symbol: EPB41L2
  hgvsc: ENST00000529208.1:c.2703A>G
  hgvsp: ENST00000529208.1:c.2703A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000526782
  gene symbol: EPB41L2
  hgvsc: ENST00000526782.1:n.88A>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436349
  ensembl transcript: ENST00000530757
  gene symbol: EPB41L2
  hgvsc: ENST00000530757.1:c.501A>G
  hgvsp: ENST00000530757.1:c.501A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434596
  ensembl transcript: ENST00000531410
  gene symbol: EPB41L2
  hgvsc: ENST00000531410.1:c.276A>G
  hgvsp: ENST00000531410.1:c.276A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3379
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.2913A>G
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ

6-131179399-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131179399
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131179399
    reference: chr 6
allele count: 1
allele frequency: 8.627532180695034e-6
allele num: 115908
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436641
  ensembl transcript: ENST00000529208
  gene symbol: EPB41L2
  hgvsc: ENST00000529208.1:c.2701-16G>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000368126
  gene symbol: EPB41L2
  hgvsc: ENST00000368126.2:n.380-16G>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000452150
  gene symbol: EPB41L2
  hgvsc: ENST00000452150.2:n.1630-16G>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000432803
  ensembl transcript: ENST00000525271
  gene symbol: EPB41L2
  hgvsc: ENST00000525271.1:c.1915-16G>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000437207
  ensembl transcript: ENST00000524581
  gene symbol: EPB41L2
  hgvsc: ENST00000524581.1:c.1045-16G>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000431647
  ensembl transcript: ENST00000527659
  gene symbol: EPB41L2
  hgvsc: ENST00000527659.1:c.2329-16G>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000338481
  ensembl transcript: ENST00000337057
  gene symbol: EPB41L2
  hgvsc: ENST00000337057.3:c.2911-16G>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434596
  ensembl transcript: ENST00000531410
  gene symbol: EPB41L2
  hgvsc: ENST00000531410.1:c.274-16G>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000526782
  gene symbol: EPB41L2
  hgvsc: ENST00000526782.1:n.70G>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000357110
  ensembl transcript: ENST00000368128
  gene symbol: EPB41L2
  hgvsc: ENST00000368128.2:c.2911-16G>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436349
  ensembl transcript: ENST00000530757
  gene symbol: EPB41L2
  hgvsc: ENST00000530757.1:c.499-16G>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000402041
  ensembl transcript: ENST00000445890
  gene symbol: EPB41L2
  hgvsc: ENST00000445890.2:c.2137-16G>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434308
  ensembl transcript: ENST00000528282
  gene symbol: EPB41L2
  hgvsc: ENST00000528282.1:c.2137-16G>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000432949
  ensembl transcript: ENST00000527017
  gene symbol: EPB41L2
  hgvsc: ENST00000527017.2:c.703-16G>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434576
  ensembl transcript: ENST00000530481
  gene symbol: EPB41L2
  hgvsc: ENST00000530481.1:c.2452-16G>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000431988
  ensembl transcript: ENST00000525193
  gene symbol: EPB41L2
  hgvsc: ENST00000525193.1:c.2014-16G>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000376222
  ensembl transcript: ENST00000392427
  gene symbol: EPB41L2
  hgvsc: ENST00000392427.3:c.1915-16G>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436348
  ensembl transcript: ENST00000527411
  gene symbol: EPB41L2
  hgvsc: ENST00000527411.1:c.2701-16G>C
  variant of: http://identifiers.org/hgnc/3379
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5987
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4392
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP

6-131179406-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131179406
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131179406
    reference: chr 6
allele count: 3
allele frequency: 2.60778859527121e-5
allele num: 115040
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000432949
  ensembl transcript: ENST00000527017
  gene symbol: EPB41L2
  hgvsc: ENST00000527017.2:c.703-23G>A
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000338481
  ensembl transcript: ENST00000337057
  gene symbol: EPB41L2
  hgvsc: ENST00000337057.3:c.2911-23G>A
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000437207
  ensembl transcript: ENST00000524581
  gene symbol: EPB41L2
  hgvsc: ENST00000524581.1:c.1045-23G>A
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000402041
  ensembl transcript: ENST00000445890
  gene symbol: EPB41L2
  hgvsc: ENST00000445890.2:c.2137-23G>A
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434596
  ensembl transcript: ENST00000531410
  gene symbol: EPB41L2
  hgvsc: ENST00000531410.1:c.274-23G>A
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000432803
  ensembl transcript: ENST00000525271
  gene symbol: EPB41L2
  hgvsc: ENST00000525271.1:c.1915-23G>A
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436348
  ensembl transcript: ENST00000527411
  gene symbol: EPB41L2
  hgvsc: ENST00000527411.1:c.2701-23G>A
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000357110
  ensembl transcript: ENST00000368128
  gene symbol: EPB41L2
  hgvsc: ENST00000368128.2:c.2911-23G>A
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000526782
  gene symbol: EPB41L2
  hgvsc: ENST00000526782.1:n.63G>A
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436641
  ensembl transcript: ENST00000529208
  gene symbol: EPB41L2
  hgvsc: ENST00000529208.1:c.2701-23G>A
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436349
  ensembl transcript: ENST00000530757
  gene symbol: EPB41L2
  hgvsc: ENST00000530757.1:c.499-23G>A
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000431647
  ensembl transcript: ENST00000527659
  gene symbol: EPB41L2
  hgvsc: ENST00000527659.1:c.2329-23G>A
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434308
  ensembl transcript: ENST00000528282
  gene symbol: EPB41L2
  hgvsc: ENST00000528282.1:c.2137-23G>A
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000368126
  gene symbol: EPB41L2
  hgvsc: ENST00000368126.2:n.380-23G>A
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000431988
  ensembl transcript: ENST00000525193
  gene symbol: EPB41L2
  hgvsc: ENST00000525193.1:c.2014-23G>A
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000376222
  ensembl transcript: ENST00000392427
  gene symbol: EPB41L2
  hgvsc: ENST00000392427.3:c.1915-23G>A
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000452150
  gene symbol: EPB41L2
  hgvsc: ENST00000452150.2:n.1630-23G>A
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434576
  ensembl transcript: ENST00000530481
  gene symbol: EPB41L2
  hgvsc: ENST00000530481.1:c.2452-23G>A
  variant of: http://identifiers.org/hgnc/3379
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ

6-131179407-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131179407
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131179407
    reference: chr 6
allele count: 9
allele frequency: 7.820510592447125e-5
allele num: 115082
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000402041
  ensembl transcript: ENST00000445890
  gene symbol: EPB41L2
  hgvsc: ENST00000445890.2:c.2137-24C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000452150
  gene symbol: EPB41L2
  hgvsc: ENST00000452150.2:n.1630-24C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436348
  ensembl transcript: ENST00000527411
  gene symbol: EPB41L2
  hgvsc: ENST00000527411.1:c.2701-24C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000431988
  ensembl transcript: ENST00000525193
  gene symbol: EPB41L2
  hgvsc: ENST00000525193.1:c.2014-24C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000368126
  gene symbol: EPB41L2
  hgvsc: ENST00000368126.2:n.380-24C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000376222
  ensembl transcript: ENST00000392427
  gene symbol: EPB41L2
  hgvsc: ENST00000392427.3:c.1915-24C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000432949
  ensembl transcript: ENST00000527017
  gene symbol: EPB41L2
  hgvsc: ENST00000527017.2:c.703-24C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000526782
  gene symbol: EPB41L2
  hgvsc: ENST00000526782.1:n.62C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434308
  ensembl transcript: ENST00000528282
  gene symbol: EPB41L2
  hgvsc: ENST00000528282.1:c.2137-24C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434576
  ensembl transcript: ENST00000530481
  gene symbol: EPB41L2
  hgvsc: ENST00000530481.1:c.2452-24C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436641
  ensembl transcript: ENST00000529208
  gene symbol: EPB41L2
  hgvsc: ENST00000529208.1:c.2701-24C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000338481
  ensembl transcript: ENST00000337057
  gene symbol: EPB41L2
  hgvsc: ENST00000337057.3:c.2911-24C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000432803
  ensembl transcript: ENST00000525271
  gene symbol: EPB41L2
  hgvsc: ENST00000525271.1:c.1915-24C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000357110
  ensembl transcript: ENST00000368128
  gene symbol: EPB41L2
  hgvsc: ENST00000368128.2:c.2911-24C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436349
  ensembl transcript: ENST00000530757
  gene symbol: EPB41L2
  hgvsc: ENST00000530757.1:c.499-24C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000437207
  ensembl transcript: ENST00000524581
  gene symbol: EPB41L2
  hgvsc: ENST00000524581.1:c.1045-24C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434596
  ensembl transcript: ENST00000531410
  gene symbol: EPB41L2
  hgvsc: ENST00000531410.1:c.274-24C>T
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000431647
  ensembl transcript: ENST00000527659
  gene symbol: EPB41L2
  hgvsc: ENST00000527659.1:c.2329-24C>T
  variant of: http://identifiers.org/hgnc/3379
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5369
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

6-131179407-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131179407
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131179407
    reference: chr 6
allele count: 7
allele frequency: 6.082619349681097e-5
allele num: 115082
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000526782
  gene symbol: EPB41L2
  hgvsc: ENST00000526782.1:n.62C>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000402041
  ensembl transcript: ENST00000445890
  gene symbol: EPB41L2
  hgvsc: ENST00000445890.2:c.2137-24C>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000437207
  ensembl transcript: ENST00000524581
  gene symbol: EPB41L2
  hgvsc: ENST00000524581.1:c.1045-24C>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436349
  ensembl transcript: ENST00000530757
  gene symbol: EPB41L2
  hgvsc: ENST00000530757.1:c.499-24C>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000376222
  ensembl transcript: ENST00000392427
  gene symbol: EPB41L2
  hgvsc: ENST00000392427.3:c.1915-24C>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000432803
  ensembl transcript: ENST00000525271
  gene symbol: EPB41L2
  hgvsc: ENST00000525271.1:c.1915-24C>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000432949
  ensembl transcript: ENST00000527017
  gene symbol: EPB41L2
  hgvsc: ENST00000527017.2:c.703-24C>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434596
  ensembl transcript: ENST00000531410
  gene symbol: EPB41L2
  hgvsc: ENST00000531410.1:c.274-24C>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436641
  ensembl transcript: ENST00000529208
  gene symbol: EPB41L2
  hgvsc: ENST00000529208.1:c.2701-24C>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000431647
  ensembl transcript: ENST00000527659
  gene symbol: EPB41L2
  hgvsc: ENST00000527659.1:c.2329-24C>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000368126
  gene symbol: EPB41L2
  hgvsc: ENST00000368126.2:n.380-24C>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000338481
  ensembl transcript: ENST00000337057
  gene symbol: EPB41L2
  hgvsc: ENST00000337057.3:c.2911-24C>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000431988
  ensembl transcript: ENST00000525193
  gene symbol: EPB41L2
  hgvsc: ENST00000525193.1:c.2014-24C>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434576
  ensembl transcript: ENST00000530481
  gene symbol: EPB41L2
  hgvsc: ENST00000530481.1:c.2452-24C>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434308
  ensembl transcript: ENST00000528282
  gene symbol: EPB41L2
  hgvsc: ENST00000528282.1:c.2137-24C>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000357110
  ensembl transcript: ENST00000368128
  gene symbol: EPB41L2
  hgvsc: ENST00000368128.2:c.2911-24C>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000452150
  gene symbol: EPB41L2
  hgvsc: ENST00000452150.2:n.1630-24C>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436348
  ensembl transcript: ENST00000527411
  gene symbol: EPB41L2
  hgvsc: ENST00000527411.1:c.2701-24C>G
  variant of: http://identifiers.org/hgnc/3379
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5369
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

6-131179412-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131179412
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131179412
    reference: chr 6
allele count: 25
allele frequency: 2.184818135738381e-4
allele num: 114426
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000357110
  ensembl transcript: ENST00000368128
  gene symbol: EPB41L2
  hgvsc: ENST00000368128.2:c.2911-29A>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000452150
  gene symbol: EPB41L2
  hgvsc: ENST00000452150.2:n.1630-29A>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000338481
  ensembl transcript: ENST00000337057
  gene symbol: EPB41L2
  hgvsc: ENST00000337057.3:c.2911-29A>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434576
  ensembl transcript: ENST00000530481
  gene symbol: EPB41L2
  hgvsc: ENST00000530481.1:c.2452-29A>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000368126
  gene symbol: EPB41L2
  hgvsc: ENST00000368126.2:n.380-29A>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436349
  ensembl transcript: ENST00000530757
  gene symbol: EPB41L2
  hgvsc: ENST00000530757.1:c.499-29A>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000437207
  ensembl transcript: ENST00000524581
  gene symbol: EPB41L2
  hgvsc: ENST00000524581.1:c.1045-29A>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434308
  ensembl transcript: ENST00000528282
  gene symbol: EPB41L2
  hgvsc: ENST00000528282.1:c.2137-29A>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000376222
  ensembl transcript: ENST00000392427
  gene symbol: EPB41L2
  hgvsc: ENST00000392427.3:c.1915-29A>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000431647
  ensembl transcript: ENST00000527659
  gene symbol: EPB41L2
  hgvsc: ENST00000527659.1:c.2329-29A>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000402041
  ensembl transcript: ENST00000445890
  gene symbol: EPB41L2
  hgvsc: ENST00000445890.2:c.2137-29A>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436641
  ensembl transcript: ENST00000529208
  gene symbol: EPB41L2
  hgvsc: ENST00000529208.1:c.2701-29A>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000526782
  gene symbol: EPB41L2
  hgvsc: ENST00000526782.1:n.57A>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000432803
  ensembl transcript: ENST00000525271
  gene symbol: EPB41L2
  hgvsc: ENST00000525271.1:c.1915-29A>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000431988
  ensembl transcript: ENST00000525193
  gene symbol: EPB41L2
  hgvsc: ENST00000525193.1:c.2014-29A>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434596
  ensembl transcript: ENST00000531410
  gene symbol: EPB41L2
  hgvsc: ENST00000531410.1:c.274-29A>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436348
  ensembl transcript: ENST00000527411
  gene symbol: EPB41L2
  hgvsc: ENST00000527411.1:c.2701-29A>G
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000432949
  ensembl transcript: ENST00000527017
  gene symbol: EPB41L2
  hgvsc: ENST00000527017.2:c.703-29A>G
  variant of: http://identifiers.org/hgnc/3379
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

6-131179416-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131179416
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 131179416
    reference: chr 6
allele count: 2
allele frequency: 1.756512269238201e-5
allele num: 113862
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000437207
  ensembl transcript: ENST00000524581
  gene symbol: EPB41L2
  hgvsc: ENST00000524581.1:c.1045-33G>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434596
  ensembl transcript: ENST00000531410
  gene symbol: EPB41L2
  hgvsc: ENST00000531410.1:c.274-33G>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000357110
  ensembl transcript: ENST00000368128
  gene symbol: EPB41L2
  hgvsc: ENST00000368128.2:c.2911-33G>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000431647
  ensembl transcript: ENST00000527659
  gene symbol: EPB41L2
  hgvsc: ENST00000527659.1:c.2329-33G>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000338481
  ensembl transcript: ENST00000337057
  gene symbol: EPB41L2
  hgvsc: ENST00000337057.3:c.2911-33G>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436348
  ensembl transcript: ENST00000527411
  gene symbol: EPB41L2
  hgvsc: ENST00000527411.1:c.2701-33G>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434308
  ensembl transcript: ENST00000528282
  gene symbol: EPB41L2
  hgvsc: ENST00000528282.1:c.2137-33G>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000376222
  ensembl transcript: ENST00000392427
  gene symbol: EPB41L2
  hgvsc: ENST00000392427.3:c.1915-33G>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000402041
  ensembl transcript: ENST00000445890
  gene symbol: EPB41L2
  hgvsc: ENST00000445890.2:c.2137-33G>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000368126
  gene symbol: EPB41L2
  hgvsc: ENST00000368126.2:n.380-33G>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436641
  ensembl transcript: ENST00000529208
  gene symbol: EPB41L2
  hgvsc: ENST00000529208.1:c.2701-33G>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000526782
  gene symbol: EPB41L2
  hgvsc: ENST00000526782.1:n.53G>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000432803
  ensembl transcript: ENST00000525271
  gene symbol: EPB41L2
  hgvsc: ENST00000525271.1:c.1915-33G>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl transcript: ENST00000452150
  gene symbol: EPB41L2
  hgvsc: ENST00000452150.2:n.1630-33G>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000436349
  ensembl transcript: ENST00000530757
  gene symbol: EPB41L2
  hgvsc: ENST00000530757.1:c.499-33G>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000432949
  ensembl transcript: ENST00000527017
  gene symbol: EPB41L2
  hgvsc: ENST00000527017.2:c.703-33G>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000434576
  ensembl transcript: ENST00000530481
  gene symbol: EPB41L2
  hgvsc: ENST00000530481.1:c.2452-33G>C
  variant of: http://identifiers.org/hgnc/3379
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079819
  ensembl protein: ENSP00000431988
  ensembl transcript: ENST00000525193
  gene symbol: EPB41L2
  hgvsc: ENST00000525193.1:c.2014-33G>C
  variant of: http://identifiers.org/hgnc/3379
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5987
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C

GenotypeQuality
all individuals: 444
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9824
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 23
allele frequency: 3.501613787223677e-4
allele num: 65684
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16192
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.943e1

FS
type: SiteQuality
SIO_000300: 5.679999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

DP
type: SiteQuality
SIO_000300: 1.707771e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

MQRankSum
type: SiteQuality
SIO_000300: 1.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.23e-1

QD
type: SiteQuality
SIO_000300: 1.289e1

GenotypeQuality
all individuals: 1477
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64736
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.043405676126878e-4
allele num: 9584
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14790
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.662354e6

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 1.575e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.484e0

GenotypeQuality
all individuals: 479
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8418
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.560744162816831e-5
allele num: 64072
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14124
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

MQRankSum
type: SiteQuality
SIO_000300: -2.053e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.633152e6

FS
type: SiteQuality
SIO_000300: 6.758e0

QD
type: SiteQuality
SIO_000300: 1.181e1

VQSLOD
type: SiteQuality
SIO_000300: -1.156e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e-1

GenotypeQuality
all individuals: 87
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.756567425569177e-5
allele num: 11420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63188
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9284
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8336
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13364
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.595961e6

FS
type: SiteQuality
SIO_000300: 3.066e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e0

MQRankSum
type: SiteQuality
SIO_000300: -1.224e0

QD
type: SiteQuality
SIO_000300: 1.246e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.15e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.6e-1

GenotypeQuality
all individuals: 426
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62128
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.759633996128805e-4
allele num: 11366
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12702
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.098418277680141e-4
allele num: 9104
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8214
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.898e0

VQSLOD
type: SiteQuality
SIO_000300: 1.54e-1

DP
type: SiteQuality
SIO_000300: 1.548566e6

MQ
type: SiteQuality
SIO_000300: 5.927e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.820000000000001e-1

FS
type: SiteQuality
SIO_000300: 4.815e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e-1

QD
type: SiteQuality
SIO_000300: 9.720000000000001e0

GenotypeQuality
all individuals: 1479
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8198
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.227159776680543e-5
allele num: 61974
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.760873393203029e-4
allele num: 11358
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9076
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.289e0

DP
type: SiteQuality
SIO_000300: 1.539783e6

QD
type: SiteQuality
SIO_000300: 1.501e1

VQSLOD
type: SiteQuality
SIO_000300: 4.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

GenotypeQuality
all individuals: 303
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11350
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.61765181662299e-5
allele num: 61818
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8184
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9036
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.28e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
SIO_000300: 1.127e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.05e-1

FS
type: SiteQuality
SIO_000300: 2.258e0

VQSLOD
type: SiteQuality
SIO_000300: 5.31e-1

DP
type: SiteQuality
SIO_000300: 1.530948e6

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

GenotypeQuality
all individuals: 952
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12538
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.221896383186706e-4
allele num: 8184
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9036
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61818
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11350
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.127e1

DP
type: SiteQuality
SIO_000300: 1.530948e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.28e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

FS
type: SiteQuality
SIO_000300: 2.258e0

VQSLOD
type: SiteQuality
SIO_000300: 5.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

GenotypeQuality
all individuals: 1916
bin: 9.75e1
variant carriers: 4

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8972
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.527628186298509e-5
allele num: 61278
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12142
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8086
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11314
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.66e-1

FS
type: SiteQuality
SIO_000300: 1.832e0

QD
type: SiteQuality
SIO_000300: 1.53e1

DP
type: SiteQuality
SIO_000300: 1.501249e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.12e-1

GenotypeQuality
all individuals: 300
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11244
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8842
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6500
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.674531575294934e-5
allele num: 11528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7992
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.748e0

MQRankSum
type: SiteQuality
SIO_000300: -9.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

VQSLOD
type: SiteQuality
SIO_000300: -2.81e0

FS
type: SiteQuality
SIO_000300: 2.696e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.447813e6

QD
type: SiteQuality
SIO_000300: 1.798e1

GenotypeQuality
all individuals: 352
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.699524133242692e-5
allele num: 58840
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7762
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10522
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.026e0

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 1.168e1

FS
type: SiteQuality
SIO_000300: 4.36e0

MQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.128e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

DP
type: SiteQuality
SIO_000300: 1.322199e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 4385
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58414
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7722
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11120
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

QD
type: SiteQuality
SIO_000300: 1.009e1

DP
type: SiteQuality
SIO_000300: 1.278357e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -5.826e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

GenotypeQuality
all individuals: 3799
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8402
num of homozygotes: 0

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

East Asian
type: Population
allele count: 4
allele frequency: 5.291005291005291e-4
allele num: 7560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11070
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57456
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.685e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.81e0

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

FS
type: SiteQuality
SIO_000300: 1.121e0

MQRankSum
type: SiteQuality
SIO_000300: -3.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.36e-1

DP
type: SiteQuality
SIO_000300: 1.197744e6

MQ
type: SiteQuality
SIO_000300: 5.95e1

GenotypeQuality
all individuals: 3861
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7210
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.231223836493475e-4
allele num: 8122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.613891800079506e-5
allele num: 55342
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8694
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 9.223390518354546e-5
allele num: 10842
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.113344e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.82e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.65e-1

FS
type: SiteQuality
SIO_000300: 3.001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.109e1

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

GenotypeQuality
all individuals: 296
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6262
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7834
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10594
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.934272300469484e-4
allele num: 6816
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53382
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8216
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.47e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.377e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.3e-3

DP
type: SiteQuality
SIO_000300: 1.087441e6

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.55643e5

BaseQRankSum
type: SiteQuality
SIO_000300: 4.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.07e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.81e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.88e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.28e0

QD
type: SiteQuality
SIO_000300: 1.567e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3526
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -5.356e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.81e-2

MQRankSum
type: SiteQuality
SIO_000300: -9.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.1e-1

QD
type: SiteQuality
SIO_000300: 1.064e1

MQ
type: SiteQuality
SIO_000300: 5.93e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.92e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.57805e5

European (Finnish)
type: Population
allele count: 1
allele frequency: 5.0e-1
allele num: 2
num of homozygotes: 0

East Asian
type: Population
allele count: 201
allele frequency: 9.95049504950495e-1
allele num: 202
num of homozygotes: 100

Latino
type: Population
allele count: 137
allele frequency: 7.287234042553191e-1
allele num: 188
num of homozygotes: 48

DP
type: SiteQuality
SIO_000300: 2.77689e5

MQRankSum
type: SiteQuality
SIO_000300: 8.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.961e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.779e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.79e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 5.319148936170213e-3
allele num: 188
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.313e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.62e-2

MQ
type: SiteQuality
SIO_000300: 4.882e1

QD
type: SiteQuality
SIO_000300: 7.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.73e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.354e0

VQSLOD
type: SiteQuality
SIO_000300: 2.19e-1

DP
type: SiteQuality
SIO_000300: 2.56654e5

Latino
type: Population
allele count: 1
allele frequency: 5.376344086021506e-3
allele num: 186
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.84e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.075e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.55e-2

QD
type: SiteQuality
SIO_000300: 1.719e1

MQRankSum
type: SiteQuality
SIO_000300: 1.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.39e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.31e-1

DP
type: SiteQuality
SIO_000300: 2.56864e5

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.312335958005249e-4
allele num: 7620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3630
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.503e1

MQRankSum
type: SiteQuality
SIO_000300: -3.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

VQSLOD
type: SiteQuality
SIO_000300: -1.088e-1

FS
type: SiteQuality
SIO_000300: 2.448e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.63e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.58546e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.441e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7620
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.58802e5

FS
type: SiteQuality
SIO_000300: 1.1518e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.087e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.62e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.55e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.66e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.484e0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

MQRankSum
type: SiteQuality
SIO_000300: 7.11e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.205e-1

FS
type: SiteQuality
SIO_000300: 4.495e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.71e-2

DP
type: SiteQuality
SIO_000300: 2.5901e5

QD
type: SiteQuality
SIO_000300: 1.389e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.201e0

European (Non-Finnish)
type: Population
allele count: 29
allele frequency: 7.984581497797356e-3
allele num: 3632
num of homozygotes: 0

South Asian
type: Population
allele count: 103
allele frequency: 1.351706036745407e-2
allele num: 7620
num of homozygotes: 2

Other
type: Population
allele count: 4
allele frequency: 3.03030303030303e-2
allele num: 132
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 5.319148936170213e-3
allele num: 188
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.64e0

QD
type: SiteQuality
SIO_000300: 1.164e1

MQ
type: SiteQuality
SIO_000300: 5.962e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.61e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.69e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.7e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.34e-1

DP
type: SiteQuality
SIO_000300: 2.77798e5

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3630
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 1.601423487544484e-2
allele num: 562
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 9.186351706036745e-4
allele num: 7620
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.8e0

MQRankSum
type: SiteQuality
SIO_000300: 3.02e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.435e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.99e-1

DP
type: SiteQuality
SIO_000300: 2.73937e5

QD
type: SiteQuality
SIO_000300: 1.256e1

FS
type: SiteQuality
SIO_000300: 5.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.22e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.14e-1

South Asian
type: Population
allele count: 1
allele frequency: 1.312335958005249e-4
allele num: 7620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3630
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e0

MQRankSum
type: SiteQuality
SIO_000300: 2.05e-1

FS
type: SiteQuality
SIO_000300: 5.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e0

QD
type: SiteQuality
SIO_000300: 1.463e1

VQSLOD
type: SiteQuality
SIO_000300: -9.121e-1

DP
type: SiteQuality
SIO_000300: 2.73518e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.232e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.72e-2

MQ
type: SiteQuality
SIO_000300: 5.943e1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.081e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.28e-1

DP
type: SiteQuality
SIO_000300: 2.73838e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.76e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.12e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
type: SiteQuality
SIO_000300: -6.01e-2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3626
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 7.575757575757576e-3
allele num: 132
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.992e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.353e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.78e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.41e-1

FS
type: SiteQuality
SIO_000300: 8.98e-1

QD
type: SiteQuality
SIO_000300: 1.317e1

DP
type: SiteQuality
SIO_000300: 2.74058e5

MQRankSum
type: SiteQuality
SIO_000300: 2.29e-1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7620
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.055e0

QD
type: SiteQuality
SIO_000300: 8.359999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.98e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.026e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.026e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.7431e5

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.312335958005249e-4
allele num: 7620
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.24e-1

DP
type: SiteQuality
SIO_000300: 2.74507e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.842e0

FS
type: SiteQuality
SIO_000300: 7.19e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.85e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.75e-1

QD
type: SiteQuality
SIO_000300: 9.4e0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3628
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.624671916010499e-4
allele num: 7620
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 5.87e-1

QD
type: SiteQuality
SIO_000300: 9.65e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.48e0

DP
type: SiteQuality
SIO_000300: 2.74796e5

FS
type: SiteQuality
SIO_000300: 8.119e0

VQSLOD
type: SiteQuality
SIO_000300: -8.065e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.82e-2

MQ
type: SiteQuality
SIO_000300: 5.989e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.23e-1

Latino
type: Population
allele count: 71
allele frequency: 3.776595744680851e-1
allele num: 188
num of homozygotes: 10

South Asian
type: Population
allele count: 3651
allele frequency: 4.791338582677165e-1
allele num: 7620
num of homozygotes: 867

European (Finnish)
type: Population
allele count: 5
allele frequency: 8.333333333333334e-1
allele num: 6
num of homozygotes: 2

African
type: Population
allele count: 244
allele frequency: 4.250871080139373e-1
allele num: 574
num of homozygotes: 51

East Asian
type: Population
allele count: 135
allele frequency: 6.683168316831684e-1
allele num: 202
num of homozygotes: 43

ClippingRankSum
type: SiteQuality
SIO_000300: -2.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.95e-1

FS
type: SiteQuality
SIO_000300: 6.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-1

QD
type: SiteQuality
SIO_000300: 1.849e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.329e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.58e0

DP
type: SiteQuality
SIO_000300: 5.99903e5

MQ
type: SiteQuality
SIO_000300: 5.966e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.705e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7620
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

African
type: Population
allele count: 11
allele frequency: 1.936619718309859e-2
allele num: 568
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.24e-1

DP
type: SiteQuality
SIO_000300: 1.96129e5

QD
type: SiteQuality
SIO_000300: 1.39e1

VQSLOD
type: SiteQuality
SIO_000300: 2.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.33e-1

FS
type: SiteQuality
SIO_000300: 5.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.87e0

MQ
type: SiteQuality
SIO_000300: 5.989e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -7.69e-1

DP
type: SiteQuality
SIO_000300: 1.9429e5

MQ
type: SiteQuality
SIO_000300: 5.906e1

QD
type: SiteQuality
SIO_000300: 9.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.507e0

FS
type: SiteQuality
SIO_000300: 1.919e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.73e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.424e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.74e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.072e0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3592
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.95882818685669e-4
allele num: 7578
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.4e0

MQRankSum
type: SiteQuality
SIO_000300: 6.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.72e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.61e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

QD
type: SiteQuality
SIO_000300: 1.268e1

DP
type: SiteQuality
SIO_000300: 1.88397e5

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.322401481089659e-4
allele num: 7562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.39e0

VQSLOD
type: SiteQuality
SIO_000300: -1.692e0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.93e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.83e0

DP
type: SiteQuality
SIO_000300: 1.74529e5

QD
type: SiteQuality
SIO_000300: 1.568e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3524
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.7e-2

QD
type: SiteQuality
SIO_000300: 1.828e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.58e-1

DP
type: SiteQuality
SIO_000300: 1.68814e5

MQRankSum
type: SiteQuality
SIO_000300: -1.306e0

MQ
type: SiteQuality
SIO_000300: 6.153e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.89e-2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.946329913180742e-4
allele num: 7602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 544
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.38e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.65046e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.71e-1

FS
type: SiteQuality
SIO_000300: 3.452e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.57e0

VQSLOD
type: SiteQuality
SIO_000300: 6.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.12e-2

QD
type: SiteQuality
SIO_000300: 1.412e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-2

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3564
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.314060446780552e-4
allele num: 7610
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.27e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

FS
type: SiteQuality
SIO_000300: 5.777e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.21e-1

QD
type: SiteQuality
SIO_000300: 1.279e1

MQ
type: SiteQuality
SIO_000300: 5.938e1

DP
type: SiteQuality
SIO_000300: 1.66288e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.314060446780552e-4
allele num: 7610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.417e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.66698e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.64e0

VQSLOD
type: SiteQuality
SIO_000300: -8.156e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.22e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQ
type: SiteQuality
SIO_000300: 5.927e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

South Asian
type: Population
allele count: 24
allele frequency: 3.152088258471237e-3
allele num: 7614
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 5.434782608695652e-3
allele num: 184
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.38e-2

DP
type: SiteQuality
SIO_000300: 1.69191e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-1

FS
type: SiteQuality
SIO_000300: 5.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.69e0

MQRankSum
type: SiteQuality
SIO_000300: 3.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.42e-1

QD
type: SiteQuality
SIO_000300: 1.488e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.88e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3604
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 9.191176470588235e-4
allele num: 7616
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.93e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.58e-1

DP
type: SiteQuality
SIO_000300: 1.68615e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.085e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.56e-1

FS
type: SiteQuality
SIO_000300: 1.96e0

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-2

QD
type: SiteQuality
SIO_000300: 1.184e1

MQ
type: SiteQuality
SIO_000300: 5.978e1

European (Non-Finnish)
type: Population
allele count: 858
allele frequency: 2.382009994447529e-1
allele num: 3602
num of homozygotes: 98

Other
type: Population
allele count: 49
allele frequency: 3.712121212121212e-1
allele num: 132
num of homozygotes: 8

Latino
type: Population
allele count: 56
allele frequency: 3.043478260869565e-1
allele num: 184
num of homozygotes: 8

South Asian
type: Population
allele count: 2926
allele frequency: 3.84393063583815e-1
allele num: 7612
num of homozygotes: 585

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.29e-1

QD
type: SiteQuality
SIO_000300: 1.741e1

FS
type: SiteQuality
SIO_000300: 6.04e-1

DP
type: SiteQuality
SIO_000300: 2.74088e5

VQSLOD
type: SiteQuality
SIO_000300: 5.09e0

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.79e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.38e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.46e-1

GenotypeDepth
all individuals: 1395
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3841
bin: 9.75e1
variant carriers: 69

GenotypeDepth
all individuals: 1300
bin: 8.75e1
variant carriers: 8

GenotypeDepth
all individuals: 950
bin: 9.25e1
variant carriers: 11

GenotypeDepth
all individuals: 1738
bin: 8.25e1
variant carriers: 9

GenotypeQuality
all individuals: 2320
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1749
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5713
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 48
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1047
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1927
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2214
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1207
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44299
bin: 9.75e1
variant carriers: 195

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

African
type: Population
allele count: 185
allele frequency: 1.777820488179896e-2
allele num: 10406
num of homozygotes: 2

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49707690001499e-5
allele num: 66710
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.67e-2

QD
type: SiteQuality
SIO_000300: 1.654e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.091e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.47e0

DP
type: SiteQuality
SIO_000300: 3.458024e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.87e-1

GenotypeDepth
all individuals: 3786
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1407
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4428
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1738
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2415
bin: 7.75e1
variant carriers: 1

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

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

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

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

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

GenotypeQuality
all individuals: 44247
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1054
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2327
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1751
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1934
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2223
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5763
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1207
bin: 8.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.573e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

MQRankSum
type: SiteQuality
SIO_000300: 5.45e-1

MQ
type: SiteQuality
SIO_000300: 5.941e1

QD
type: SiteQuality
SIO_000300: 1.501e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.25e-1

DP
type: SiteQuality
SIO_000300: 3.450366e6

GenotypeDepth
all individuals: 4866
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1302
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6264
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3787
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1738
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 1929
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5870
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1204
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1050
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2217
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2328
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1746
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44236
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.98e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.721e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.71e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.791e1

VQSLOD
type: SiteQuality
SIO_000300: 3.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

DP
type: SiteQuality
SIO_000300: 3.450781e6

GenotypeDepth
all individuals: 4862
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4678
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3786
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1452
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1302
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1203
bin: 8.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 2218
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1743
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44236
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5922
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2335
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1042
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1930
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997512064986062e-5
allele num: 66722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.249e0

MQRankSum
type: SiteQuality
SIO_000300: 4.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.555e1

DP
type: SiteQuality
SIO_000300: 3.451186e6

FS
type: SiteQuality
SIO_000300: 3.932e0

MQ
type: SiteQuality
SIO_000300: 5.999e1

GenotypeDepth
all individuals: 5363
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2414
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1303
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3914
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 943
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2340
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5959
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 13
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1931
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2219
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1739
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44239
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1204
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1042
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997422216893472e-5
allele num: 66724
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.72e0

VQSLOD
type: SiteQuality
SIO_000300: 7.94e-1

QD
type: SiteQuality
SIO_000300: 1.205e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.62e0

MQRankSum
type: SiteQuality
SIO_000300: -4.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.39e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.451388e6

GenotypeDepth
all individuals: 3914
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6266
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5363
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 943
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3786
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1741
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1042
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5954
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2219
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2341
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1204
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44238
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1930
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.944e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.354e1

MQRankSum
type: SiteQuality
SIO_000300: -7.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.451455e6

VQSLOD
type: SiteQuality
SIO_000300: -7.154e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.012e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.848e0

GenotypeDepth
all individuals: 6266
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 5363
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2413
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3912
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1452
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6404
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4427
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3958
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1738
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4862
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4697
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3363
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5964
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44238
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2341
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1044
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 13
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1930
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1204
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2219
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1741
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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: -6.98e-1

FS
type: SiteQuality
SIO_000300: 3.289e0

DP
type: SiteQuality
SIO_000300: 3.45167e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.039999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

VQSLOD
type: SiteQuality
SIO_000300: 2.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.177e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

QD
type: SiteQuality
SIO_000300: 1.635e1

GenotypeDepth
all individuals: 5799
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3912
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3363
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6267
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4861
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4698
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1302
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 942
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4426
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1737
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1451
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3792
bin: 9.75e1
variant carriers: 9

GenotypeDepth
all individuals: 5363
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5965
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1044
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1204
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2342
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44238
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1741
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2219
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1930
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

East Asian
type: Population
allele count: 10
allele frequency: 1.155535012710885e-3
allele num: 8654
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -6.601e0

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

MQRankSum
type: SiteQuality
SIO_000300: -4.36e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.05e-1

FS
type: SiteQuality
SIO_000300: 2.984e0

QD
type: SiteQuality
SIO_000300: 1.047e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.74e-1

DP
type: SiteQuality
SIO_000300: 3.452723e6

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

GenotypeDepth
all individuals: 4683
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1738
bin: 8.25e1
variant carriers: 4

GenotypeDepth
all individuals: 1446
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3362
bin: 7.25e1
variant carriers: 10

GenotypeDepth
all individuals: 3927
bin: 3.25e1
variant carriers: 4

GenotypeDepth
all individuals: 3890
bin: 3.75e1
variant carriers: 5

GenotypeDepth
all individuals: 940
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 9
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 1299
bin: 8.75e1
variant carriers: 3

GenotypeDepth
all individuals: 4423
bin: 6.75e1
variant carriers: 9

GenotypeDepth
all individuals: 3911
bin: 9.75e1
variant carriers: 136

GenotypeDepth
all individuals: 2416
bin: 7.75e1
variant carriers: 10

GenotypeDepth
all individuals: 5351
bin: 6.25e1
variant carriers: 7

GenotypeDepth
all individuals: 6394
bin: 5.25e1
variant carriers: 13

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

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1725
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44295
bin: 9.75e1
variant carriers: 238

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

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

GenotypeQuality
all individuals: 1195
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2212
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1923
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2335
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5952
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.591121091725686e-4
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 240
allele frequency: 1.45366444579043e-2
allele num: 16510
num of homozygotes: 6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.64e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.31e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.81e0

FS
type: SiteQuality
SIO_000300: 1.216e0

QD
type: SiteQuality
SIO_000300: 1.165e1

DP
type: SiteQuality
SIO_000300: 3.466744e6

GenotypeDepth
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6267
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3361
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3903
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4421
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4736
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1460
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3961
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 6402
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 941
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5804
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1297
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4845
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2407
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2224
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1199
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1929
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1738
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2361
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1041
bin: 7.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 6012
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44165
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.672e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.467e0

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

DP
type: SiteQuality
SIO_000300: 3.448988e6

QD
type: SiteQuality
SIO_000300: 1.124e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.17e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.511e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.83e0

GenotypeDepth
all individuals: 5360
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6401
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4420
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 4736
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 941
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1297
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5804
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3903
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3779
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 3361
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3960
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6267
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1460
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1738
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1199
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1041
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6013
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2361
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2224
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1929
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44164
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.66e0

MQRankSum
type: SiteQuality
SIO_000300: 5.13e-1

FS
type: SiteQuality
SIO_000300: 4.302e0

DP
type: SiteQuality
SIO_000300: 3.449124e6

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.01e0

QD
type: SiteQuality
SIO_000300: 1.404e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.601e0

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

GenotypeDepth
all individuals: 1507
bin: 8.25e1
variant carriers: 23

GenotypeDepth
all individuals: 4670
bin: 4.25e1
variant carriers: 15

GenotypeDepth
all individuals: 5919
bin: 5.75e1
variant carriers: 26

GenotypeDepth
all individuals: 5033
bin: 6.25e1
variant carriers: 20

GenotypeDepth
all individuals: 6147
bin: 5.25e1
variant carriers: 28

GenotypeDepth
all individuals: 3019
bin: 7.25e1
variant carriers: 27

GenotypeDepth
all individuals: 3872
bin: 3.25e1
variant carriers: 8

GenotypeDepth
all individuals: 6863
bin: 9.75e1
variant carriers: 3747

GenotypeDepth
all individuals: 3770
bin: 3.75e1
variant carriers: 14

GenotypeDepth
all individuals: 2113
bin: 7.75e1
variant carriers: 18

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

GenotypeDepth
all individuals: 4117
bin: 6.75e1
variant carriers: 21

GenotypeDepth
all individuals: 4689
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 5579
bin: 4.75e1
variant carriers: 22

GenotypeDepth
all individuals: 833
bin: 9.25e1
variant carriers: 26

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1172
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2336
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1024
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5971
bin: 6.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1700
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1904
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44380
bin: 9.75e1
variant carriers: 4019

GenotypeQuality
all individuals: 2176
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 75
allele frequency: 7.207380357486066e-3
allele num: 10406
num of homozygotes: 1

Latino
type: Population
allele count: 115
allele frequency: 9.932630851615132e-3
allele num: 11578
num of homozygotes: 1

South Asian
type: Population
allele count: 141
allele frequency: 8.542348237004725e-3
allele num: 16506
num of homozygotes: 3

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 584
allele frequency: 8.829755065013607e-2
allele num: 6614
num of homozygotes: 33

European (Non-Finnish)
type: Population
allele count: 3208
allele frequency: 4.807721128195905e-2
allele num: 66726
num of homozygotes: 90

Other
type: Population
allele count: 27
allele frequency: 2.973568281938326e-2
allele num: 908
num of homozygotes: 1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.39e-1

QD
type: SiteQuality
SIO_000300: 1.403e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.23e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.998823e6

MQ
type: SiteQuality
SIO_000300: 5.958e1

VQSLOD
type: SiteQuality
SIO_000300: 5.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.91e-1

GenotypeDepth
all individuals: 2256
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5014
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3372
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 6319
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6523
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5988
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1445
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3212
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4883
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 863
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4025
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1586
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4126
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5377
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1266
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2329
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43307
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 2048
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6196
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1111
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2441
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1818
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.067e1

VQSLOD
type: SiteQuality
SIO_000300: 4.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.592e0

FS
type: SiteQuality
SIO_000300: 1.125e0

MQRankSum
type: SiteQuality
SIO_000300: -8.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.81e-1

DP
type: SiteQuality
SIO_000300: 3.378166e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.44e-1

GenotypeDepth
all individuals: 3978
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4756
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3212
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3373
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5007
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 191
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1164
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5987
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5377
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4396
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4011
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2256
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 863
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1585
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1259
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2321
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2358
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1087
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6017
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2034
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1790
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43299
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50073536032656e-5
allele num: 66634
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16346
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.31e-1

QD
type: SiteQuality
SIO_000300: 1.048e1

DP
type: SiteQuality
SIO_000300: 3.373025e6

MQ
type: SiteQuality
SIO_000300: 5.977e1

VQSLOD
type: SiteQuality
SIO_000300: 8.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

MQRankSum
type: SiteQuality
SIO_000300: -5.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeDepth
all individuals: 1164
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3212
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4756
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1585
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4011
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5987
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 6519
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3373
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 126
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6318
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5377
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4396
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2256
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5007
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2034
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1790
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43299
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2358
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2321
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1087
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1259
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6017
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.223540927444023e-4
allele num: 16346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66634
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

DP
type: SiteQuality
SIO_000300: 3.373025e6

MQRankSum
type: SiteQuality
SIO_000300: -5.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.02e-1

FS
type: SiteQuality
SIO_000300: 5.31e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

VQSLOD
type: SiteQuality
SIO_000300: 8.58e-1

QD
type: SiteQuality
SIO_000300: 1.048e1

GenotypeDepth
all individuals: 3942
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1164
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6519
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4709
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1506
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3211
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 863
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5005
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1585
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 6318
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3371
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 114
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2256
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5984
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5378
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 329
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2337
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2321
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 43297
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 58
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5924
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1784
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1083
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2031
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1258
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66620
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16316
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e0

QD
type: SiteQuality
SIO_000300: 1.142e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.09e0

VQSLOD
type: SiteQuality
SIO_000300: -2.581e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 3.37095e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

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

GenotypeDepth
all individuals: 3210
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3868
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5377
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4617
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 221
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1585
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6519
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3372
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 5985
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 143
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5002
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4396
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2256
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1501
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1164
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2321
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5836
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2306
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43295
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 2024
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1259
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1777
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 456
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1074
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.232589670898558e-4
allele num: 16226
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66580
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 3.367427e6

MQRankSum
type: SiteQuality
SIO_000300: 6.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e0

MQ
type: SiteQuality
SIO_000300: 5.989e1

QD
type: SiteQuality
SIO_000300: 1.377e1

FS
type: SiteQuality
SIO_000300: 4.222e0

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

GenotypeDepth
all individuals: 863
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3955
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 653
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4160
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 330
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1585
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5377
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3596
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4395
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4994
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6519
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6318
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5983
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2255
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3373
bin: 9.75e1
variant carriers: 5

GenotypeDepth
all individuals: 1164
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1734
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43292
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 962
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1022
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 64
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2009
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2168
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2317
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5217
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15834
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.526266670680676e-5
allele num: 66434
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.21e-1

MQ
type: SiteQuality
SIO_000300: 6.007e1

DP
type: SiteQuality
SIO_000300: 3.354336e6

VQSLOD
type: SiteQuality
SIO_000300: 4.87e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.7e1

GenotypeDepth
all individuals: 3166
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 587
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1116
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1326
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6520
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3922
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4394
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2253
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5372
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2969
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5982
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6318
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1553
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1165
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 862
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3209
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4984
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3894
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2260
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1675
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1984
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1771
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 944
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1253
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2312
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43290
bin: 9.75e1
variant carriers: 22

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514279657167086e-5
allele num: 66038
num of homozygotes: 0

African
type: Population
allele count: 21
allele frequency: 2.024681835711531e-3
allele num: 10372
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14742
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.323531e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.96e0

QD
type: SiteQuality
SIO_000300: 1.321e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.961e1

MQRankSum
type: SiteQuality
SIO_000300: 3.13e-1

GenotypeDepth
all individuals: 862
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6520
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2864
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2256
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 591
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3365
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 3120
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6320
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4395
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3210
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1190
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3920
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1659
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1298
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5372
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4986
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1165
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3684
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2313
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1667
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 43287
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1754
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 50
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2393
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 943
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1252
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1985
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 2.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14586
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.030027573250917e-5
allele num: 66006
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 8.1e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -7.43e-1

FS
type: SiteQuality
SIO_000300: 3.146e0

QD
type: SiteQuality
SIO_000300: 1.492e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.064e0

MQ
type: SiteQuality
SIO_000300: 5.913e1

DP
type: SiteQuality
SIO_000300: 3.318326e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.279e0

GenotypeDepth
all individuals: 2256
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4984
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3913
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5986
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3007
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 116
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2104
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6320
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6520
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2417
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 861
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3364
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 570
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1585
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3210
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1165
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 975
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1585
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3096
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1578
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 909
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3163
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2313
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1252
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1981
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1653
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43287
bin: 9.75e1
variant carriers: 1

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: 0
allele frequency: 0.0e0
allele num: 65764
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13980
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -6.939e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.33e-1

QD
type: SiteQuality
SIO_000300: 1.386e1

VQSLOD
type: SiteQuality
SIO_000300: 1.22e-1

DP
type: SiteQuality
SIO_000300: 3.303153e6

MQRankSum
type: SiteQuality
SIO_000300: -9.88e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.8e-1

GenotypeDepth
all individuals: 6320
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3208
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 558
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1585
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3913
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2108
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 116
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3376
bin: 9.75e1
variant carriers: 18

GenotypeDepth
all individuals: 861
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1594
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4391
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5372
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3005
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 977
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6520
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1162
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4983
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2416
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2254
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5986
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 383
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3215
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1578
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2313
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1252
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1981
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3100
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43287
bin: 9.75e1
variant carriers: 20

GenotypeQuality
all individuals: 1656
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 906
bin: 7.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13962
num of homozygotes: 0

East Asian
type: Population
allele count: 11
allele frequency: 1.27373784159333e-3
allele num: 8636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.064315037251026e-4
allele num: 65770
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.699e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.74e-1

FS
type: SiteQuality
SIO_000300: 3.206e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.01e-1

DP
type: SiteQuality
SIO_000300: 3.303687e6

QD
type: SiteQuality
SIO_000300: 1.161e1

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

GenotypeDepth
all individuals: 6524
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 516
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4983
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2096
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1585
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 385
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2941
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3908
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2339
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5372
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 861
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3359
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2254
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6320
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1490
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43280
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1250
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2538
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1634
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1981
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3524
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 883
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2313
bin: 9.25e1
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: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531018433461939e-5
allele num: 65316
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.06e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.08e0

QD
type: SiteQuality
SIO_000300: 1.428e1

MQRankSum
type: SiteQuality
SIO_000300: -1.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.283883e6

GenotypeDepth
all individuals: 1585
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3903
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6321
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5986
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 462
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5372
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4393
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2126
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2914
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6523
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3359
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 860
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2254
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1161
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1250
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43279
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1977
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 358
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2397
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1471
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3261
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 762
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1630
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2313
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536475938786798e-5
allele num: 65084
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 8.301510874979246e-5
allele num: 12046
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.674531575294934e-5
allele num: 11528
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.56e0

QD
type: SiteQuality
SIO_000300: 8.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.226e-1

DP
type: SiteQuality
SIO_000300: 3.277712e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.3e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

GenotypeDepth
all individuals: 2253
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5988
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6523
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 462
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2910
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 689
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 291
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3210
bin: 7.25e1
variant carriers: 2

GenotypeDepth
all individuals: 3361
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 1163
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1584
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 860
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3900
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4393
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1474
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 356
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 768
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2313
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2407
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1977
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1630
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1248
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3336
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43278
bin: 9.75e1
variant carriers: 9

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

GenotypeQuality
all individuals: 300
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 6
allele frequency: 6.968641114982578e-4
allele num: 8610
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65084
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.706853038245001e-5
allele num: 10302
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.674531575294934e-5
allele num: 11528
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.269930532583527e-5
allele num: 12092
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.55e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.52e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.95e-1

DP
type: SiteQuality
SIO_000300: 3.277215e6

QD
type: SiteQuality
SIO_000300: 1.49e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

GenotypeDepth
all individuals: 462
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6523
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2910
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1163
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 689
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2253
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2118
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3361
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1584
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 4393
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1969
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5988
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6322
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3900
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 115
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1977
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3336
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1474
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 768
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 356
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2313
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1630
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 43278
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2407
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1248
bin: 8.75e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 7
allele frequency: 5.788951372808468e-4
allele num: 12092
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65084
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.52e-1

DP
type: SiteQuality
SIO_000300: 3.277215e6

VQSLOD
type: SiteQuality
SIO_000300: 5.55e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.98e-1

QD
type: SiteQuality
SIO_000300: 1.49e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 5985
bin: 4.75e1
variant carriers: 2

GenotypeDepth
all individuals: 6322
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6524
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2877
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2478
bin: 7.5e0
variant carriers: 4

GenotypeDepth
all individuals: 3894
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4982
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 283
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5373
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 858
bin: 9.25e1
variant carriers: 2

GenotypeDepth
all individuals: 3359
bin: 9.75e1
variant carriers: 4

GenotypeDepth
all individuals: 2255
bin: 7.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1895
bin: 1.25e1
variant carriers: 5

GenotypeDepth
all individuals: 4393
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3066
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43281
bin: 9.75e1
variant carriers: 25

GenotypeQuality
all individuals: 307
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 287
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 871
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 994
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1625
bin: 7.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1250
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 124
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1459
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1976
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2328
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2312
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 25
allele frequency: 3.850418925579103e-4
allele num: 64928
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11624
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.14e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-3

DP
type: SiteQuality
SIO_000300: 3.272462e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.558e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.397e1

GenotypeDepth
all individuals: 988
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4982
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2615
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3208
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 856
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3355
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2253
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 425
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2853
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6323
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4394
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6523
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1161
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5373
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2314
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1164
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2766
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43268
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1619
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2213
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1972
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 866
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 321
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1248
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1441
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.737317581653926e-4
allele num: 11512
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64798
num of homozygotes: 0