17-78333840-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78333840
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78333840
    reference: chr 17
allele count: 62652
allele frequency: 5.210058876359644e-1
allele num: 120252
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5274-21T>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000560694
  gene symbol: RNF213
  hgvsc: ENST00000560694.1:n.311-21T>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11055-21T>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11202-21T>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-5225A>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-4752A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.384-21T>C
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 5.25e1
  variant carriers: 1669
genotype depth: GenotypeDepth
  all individuals: 4733
  bin: 4.25e1
  variant carriers: 4518
genotype depth: GenotypeDepth
  all individuals: 11082
  bin: 2.25e1
  variant carriers: 4517
genotype depth: GenotypeDepth
  all individuals: 11022
  bin: 2.75e1
  variant carriers: 6747
genotype depth: GenotypeDepth
  all individuals: 8508
  bin: 3.25e1
  variant carriers: 7467
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 1.75e1
  variant carriers: 2146
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.5e0
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 6622
  bin: 3.75e1
  variant carriers: 6339
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 6.25e1
  variant carriers: 727
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 4.75e1
  variant carriers: 2796
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 5.75e1
  variant carriers: 1004
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 1.25e1
  variant carriers: 590
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.25e1
  variant carriers: 421
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.75e1
  variant carriers: 389
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.75e1
  variant carriers: 532
genotype depth: GenotypeDepth
  all individuals: 4905
  bin: 9.75e1
  variant carriers: 4619
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.25e1
  variant carriers: 452
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.25e1
  variant carriers: 351
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.75e1
  variant carriers: 421
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 7.75e1
  variant carriers: 933
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 4.25e1
  variant carriers: 206
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 2.25e1
  variant carriers: 77
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 8.25e1
  variant carriers: 1055
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 2.75e1
  variant carriers: 99
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 3.25e1
  variant carriers: 141
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 5.75e1
  variant carriers: 377
genotype quality: GenotypeQuality
  all individuals: 10090
  bin: 6.25e1
  variant carriers: 747
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 9.25e1
  variant carriers: 1088
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 40
num of homozygotes: 17115
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum

17-78333841-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78333841
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78333841
    reference: chr 17
allele count: 4
allele frequency: 3.311861431717697e-5
allele num: 120778
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000560694
  gene symbol: RNF213
  hgvsc: ENST00000560694.1:n.311-20C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-5226G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-4753G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11202-20C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11055-20C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.384-20C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5274-20C>T
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23793
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2041
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7708
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6527
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-78333842-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78333842
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78333842
    reference: chr 17
allele count: 1
allele frequency: 8.275542461808372e-6
allele num: 120838
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11055-19A>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-4754T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-5227T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.384-19A>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11202-19A>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000560694
  gene symbol: RNF213
  hgvsc: ENST00000560694.1:n.311-19A>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5274-19A>C
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6563
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

17-78333842-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78333842
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78333842
    reference: chr 17
allele count: 1
allele frequency: 8.275542461808372e-6
allele num: 120838
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5274-19A>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11202-19A>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-4754T>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11055-19A>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-5227T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000560694
  gene symbol: RNF213
  hgvsc: ENST00000560694.1:n.311-19A>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.384-19A>T
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2033
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

17-78333846-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78333846
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78333846
    reference: chr 17
allele count: 5
allele frequency: 4.137839716640736e-5
allele num: 120836
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.384-15C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5274-15C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11202-15C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000560694
  gene symbol: RNF213
  hgvsc: ENST00000560694.1:n.311-15C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-4758G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11055-15C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-5231G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23960
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5557
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1952
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7681
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37326
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

17-78333852-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78333852
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78333852
    reference: chr 17
allele count: 1
allele frequency: 8.271845945141119e-6
allele num: 120892
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-4764A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11202-9T>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000560694
  gene symbol: RNF213
  hgvsc: ENST00000560694.1:n.311-9T>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-5237A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.384-9T>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11055-9T>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5274-9T>C
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6561
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38470
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

17-78333854-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78333854
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78333855
    reference: chr 17
allele count: 10
allele frequency: 8.270888127967181e-5
allele num: 120906
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000560694
  gene symbol: RNF213
  hgvsc: ENST00000560694.1:n.311-5dupT
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5274-5dupT
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-5240dupA
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11055-5dupT
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-4767dupA
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11202-5dupT
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.384-5dupT
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20129
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5500
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24184
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38593
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1889
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6556
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 4.75e1
  variant carriers: 0
hgvs: c.11055-5dupT
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

17-78333855-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78333855
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78333855
    reference: chr 17
allele count: 4
allele frequency: 3.308738378056447e-5
allele num: 120892
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11055-6T>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11202-6T>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5274-6T>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-4767A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.384-6T>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000560694
  gene symbol: RNF213
  hgvsc: ENST00000560694.1:n.311-6T>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-5240A>G
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24220
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5506
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20221
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1889
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: c.11055-6T>C
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

17-78333860-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78333860
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78333860
    reference: chr 17
allele count: 1
allele frequency: 8.267879288962381e-6
allele num: 120950
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-4772C>T
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11055-1G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.384-1G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11202-1G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000560694
  gene symbol: RNF213
  hgvsc: ENST00000560694.1:n.311-1G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-5245C>T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5274-1G>A
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39356
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
hgvs: c.11055-1G>A
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-78333863-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78333863
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78333863
    reference: chr 17
allele count: 1
allele frequency: 8.265282507356101e-6
allele num: 120988
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.386A>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11057A>G
  hgvsp: ENSP00000464087.1:p.His3686Arg
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-4775T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000560694
  gene symbol: RNF213
  hgvsc: ENST00000560694.1:n.313A>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5276A>G
  hgvsp: ENSP00000338218.6:p.His1759Arg
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11204A>G
  hgvsp: ENSP00000425956.2:p.His3735Arg
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-5248T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5512
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1846
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1760
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39682
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 2.25e1
  variant carriers: 0
hgvs: p.His3686Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/17-78333867-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78333867
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78333867
    reference: chr 17
allele count: 1
allele frequency: 8.26405302216419e-6
allele num: 121006
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-4779T>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11061A>C
  hgvsp: ENSP00000464087.1:p.Lys3687Asn
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-5252T>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11208A>C
  hgvsp: ENSP00000425956.2:p.Lys3736Asn
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.390A>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5280A>C
  hgvsp: ENSP00000338218.6:p.Lys1760Asn
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000560694
  gene symbol: RNF213
  hgvsc: ENST00000560694.1:n.317A>C
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1761
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39933
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys3687Asn
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

17-78333880-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78333880
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78333880
    reference: chr 17
allele count: 1
allele frequency: 8.265555775970376e-6
allele num: 120984
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-4792A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5293T>C
  hgvsp: ENSP00000338218.6:p.Tyr1765His
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.403T>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000560694
  gene symbol: RNF213
  hgvsc: ENST00000560694.1:n.330T>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11074T>C
  hgvsp: ENSP00000464087.1:p.Tyr3692His
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-5265A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11221T>C
  hgvsp: ENSP00000425956.2:p.Tyr3741His
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1819
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7638
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40080
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Tyr3692His
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

17-78333882-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78333882
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78333882
    reference: chr 17
allele count: 1
allele frequency: 8.266375690242371e-6
allele num: 120972
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-4794G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-5267G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.405C>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000560694
  gene symbol: RNF213
  hgvsc: ENST00000560694.1:n.332C>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11223C>G
  hgvsp: ENSP00000425956.2:p.Tyr3741Ter
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11076C>G
  hgvsp: ENSP00000464087.1:p.Tyr3692Ter
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5295C>G
  hgvsp: ENSP00000338218.6:p.Tyr1765Ter
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7639
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Tyr3692Ter
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

17-78333882-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78333882
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78333882
    reference: chr 17
allele count: 1
allele frequency: 8.266375690242371e-6
allele num: 120972
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000560694
  gene symbol: RNF213
  hgvsc: ENST00000560694.1:n.332C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-4794G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11223C>T
  hgvsp: ENST00000508628.2:c.11223C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11076C>T
  hgvsp: ENST00000582970.1:c.11076C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.405C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5295C>T
  hgvsp: ENST00000336301.6:c.5295C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-5267G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6524
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1824
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Tyr3692Tyr
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD

17-78333885-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78333885
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78333885
    reference: chr 17
allele count: 3
allele frequency: 2.479953707530793e-5
allele num: 120970
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-4797G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.408C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11079C>T
  hgvsp: ENST00000582970.1:c.11079C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000560694
  gene symbol: RNF213
  hgvsc: ENST00000560694.1:n.335C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11226C>T
  hgvsp: ENST00000508628.2:c.11226C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5298C>T
  hgvsp: ENST00000336301.6:c.5298C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-5270G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1761
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40177
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile3693Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

17-78333891-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78333891
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78333891
    reference: chr 17
allele count: 1
allele frequency: 8.267059076404159e-6
allele num: 120962
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.414G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-4803C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5304G>A
  hgvsp: ENST00000336301.6:c.5304G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11232G>A
  hgvsp: ENST00000508628.2:c.11232G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11085G>A
  hgvsp: ENST00000582970.1:c.11085G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000560694
  gene symbol: RNF213
  hgvsc: ENST00000560694.1:n.341G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-5276C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20481
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40313
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val3695Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

17-78333902-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78333902
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78333902
    reference: chr 17
allele count: 13
allele frequency: 1.075090969235858e-4
allele num: 120920
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000560694
  gene symbol: RNF213
  hgvsc: ENST00000560694.1:n.352T>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11096T>C
  hgvsp: ENSP00000464087.1:p.Met3699Thr
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.425T>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-5287A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5315T>C
  hgvsp: ENSP00000338218.6:p.Met1772Thr
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-4814A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11243T>C
  hgvsp: ENSP00000425956.2:p.Met3748Thr
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24974
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40502
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Met3699Thr
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

17-78333909-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78333909
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78333909
    reference: chr 17
allele count: 1
allele frequency: 8.27841981522567e-6
allele num: 120796
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11250T>C
  hgvsp: ENST00000508628.2:c.11250T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11103T>C
  hgvsp: ENST00000582970.1:c.11103T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5322T>C
  hgvsp: ENST00000336301.6:c.5322T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-5294A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000560694
  gene symbol: RNF213
  hgvsc: ENST00000560694.1:n.359T>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.432T>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-4821A>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24996
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40264
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1742
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7623
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6401
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu3701Leu
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

17-78333912-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78333912
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78333912
    reference: chr 17
allele count: 4
allele frequency: 3.313672211544834e-5
allele num: 120712
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.435C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000560694
  gene symbol: RNF213
  hgvsc: ENST00000560694.1:n.362C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-4824G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11253C>T
  hgvsp: ENST00000508628.2:c.11253C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5325C>T
  hgvsp: ENST00000336301.6:c.5325C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11106C>T
  hgvsp: ENST00000582970.1:c.11106C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-5297G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24994
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5483
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6345
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1670
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser3702Ser
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-78333913-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78333913
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78333913
    reference: chr 17
allele count: 1
allele frequency: 8.286789200656313e-6
allele num: 120674
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11254G>A
  hgvsp: ENSP00000425956.2:p.Glu3752Lys
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000560694
  gene symbol: RNF213
  hgvsc: ENST00000560694.1:n.363G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11107G>A
  hgvsp: ENSP00000464087.1:p.Glu3703Lys
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.436G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-4825C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-5298C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5326G>A
  hgvsp: ENSP00000338218.6:p.Glu1776Lys
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20159
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu3703Lys
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-78333918-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78333918
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78333918
    reference: chr 17
allele count: 3
allele frequency: 2.488552657774238e-5
allele num: 120552
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11112C>T
  hgvsp: ENST00000582970.1:c.11112C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-4830G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11259C>T
  hgvsp: ENST00000508628.2:c.11259C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5331C>T
  hgvsp: ENST00000336301.6:c.5331C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.441C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-5303G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000560694
  gene symbol: RNF213
  hgvsc: ENST00000560694.1:n.368C>T
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5442
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24936
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1644
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40012
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1689
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asn3704Asn
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum

17-78333919-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78333919
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78333919
    reference: chr 17
allele count: 1
allele frequency: 8.296964970213896e-6
allele num: 120526
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11260G>A
  hgvsp: ENSP00000425956.2:p.Ala3754Thr
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.442G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-4831C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11113G>A
  hgvsp: ENSP00000464087.1:p.Ala3705Thr
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000560694
  gene symbol: RNF213
  hgvsc: ENST00000560694.1:n.369G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5332G>A
  hgvsp: ENSP00000338218.6:p.Ala1778Thr
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-5304C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5425
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6272
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39989
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7616
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala3705Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

17-78333930-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78333930
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78333930
    reference: chr 17
allele count: 312
allele frequency: 2.601908065915004e-3
allele num: 119912
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5343C>T
  hgvsp: ENST00000336301.6:c.5343C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-5315G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.453C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11271C>T
  hgvsp: ENST00000508628.2:c.11271C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000560694
  gene symbol: RNF213
  hgvsc: ENST00000560694.1:n.380C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-4842G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11124C>T
  hgvsp: ENST00000582970.1:c.11124C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 4.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 19707
  bin: 2.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5284
  bin: 3.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 3.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24507
  bin: 2.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 9.75e1
  variant carriers: 51
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1569
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39198
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1316
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7823
  bin: 9.75e1
  variant carriers: 307
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5993
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn3708Asn
num of homozygotes: 3
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD

17-78333931-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78333931
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78333931
    reference: chr 17
allele count: 3
allele frequency: 2.506391297809414e-5
allele num: 119694
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11272G>A
  hgvsp: ENSP00000425956.2:p.Val3758Ile
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-5316C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-4843C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5344G>A
  hgvsp: ENSP00000338218.6:p.Val1782Ile
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000560694
  gene symbol: RNF213
  hgvsc: ENST00000560694.1:n.381G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11125G>A
  hgvsp: ENSP00000464087.1:p.Val3709Ile
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.454G>A
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24437
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5941
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val3709Ile
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

17-78333939-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78333939
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78333939
    reference: chr 17
allele count: 9
allele frequency: 7.556040634707413e-5
allele num: 119110
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-4851G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.462C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5352C>T
  hgvsp: ENST00000336301.6:c.5352C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000560694
  gene symbol: RNF213
  hgvsc: ENST00000560694.1:n.389C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11280C>T
  hgvsp: ENST00000508628.2:c.11280C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11133C>T
  hgvsp: ENST00000582970.1:c.11133C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-5324G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5081
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23865
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19716
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1548
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38558
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Phe3711Phe
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD

17-78333948-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78333948
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78333948
    reference: chr 17
allele count: 8
allele frequency: 6.779546109387976e-5
allele num: 118002
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000560694
  gene symbol: RNF213
  hgvsc: ENST00000560694.1:n.398A>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11289A>T
  hgvsp: ENSP00000425956.2:p.Lys3763Asn
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.471A>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-5333T>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11142A>T
  hgvsp: ENSP00000464087.1:p.Lys3714Asn
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5361A>T
  hgvsp: ENSP00000338218.6:p.Lys1787Asn
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-4860T>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23020
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37904
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5463
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys3714Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

17-78333964-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78333964
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78333964
    reference: chr 17
allele count: 2
allele frequency: 1.741341180977589e-5
allele num: 114854
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000560694
  gene symbol: RNF213
  hgvsc: ENST00000560694.1:n.414G>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-5349C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11305G>C
  hgvsp: ENSP00000425956.2:p.Glu3769Gln
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.487G>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-4876C>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11158G>C
  hgvsp: ENSP00000464087.1:p.Glu3720Gln
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5377G>C
  hgvsp: ENSP00000338218.6:p.Glu1793Gln
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18888
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34027
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5796
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu3720Gln
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-78333983-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78333983
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78333983
    reference: chr 17
allele count: 1
allele frequency: 9.188136278437281e-6
allele num: 108836
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000560694
  gene symbol: RNF213
  hgvsc: ENST00000560694.1:n.433C>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.506C>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5396C>A
  hgvsp: ENSP00000338218.6:p.Ala1799Asp
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-5368G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11324C>A
  hgvsp: ENSP00000425956.2:p.Ala3775Asp
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11177C>A
  hgvsp: ENSP00000464087.1:p.Ala3726Asp
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-4895G>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17083
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8052
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28820
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7547
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala3726Asp
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

17-78333986-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78333986
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78333986
    reference: chr 17
allele count: 2
allele frequency: 1.871222469639415e-5
allele num: 106882
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5399A>G
  hgvsp: ENSP00000338218.6:p.Gln1800Arg
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.509A>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11180A>G
  hgvsp: ENSP00000464087.1:p.Gln3727Arg
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000560694
  gene symbol: RNF213
  hgvsc: ENST00000560694.1:n.436A>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11327A>G
  hgvsp: ENSP00000425956.2:p.Gln3776Arg
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-4898T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-5371T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14222
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7071
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9482
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12848
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln3727Arg
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

17-78333998-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78333998
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78333998
    reference: chr 17
allele count: 306
allele frequency: 3.005539622048482e-3
allele num: 101812
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000560694
  gene symbol: RNF213
  hgvsc: ENST00000560694.1:n.448A>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.521A>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5411A>G
  hgvsp: ENSP00000338218.6:p.Asp1804Gly
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11192A>G
  hgvsp: ENSP00000464087.1:p.Asp3731Gly
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11339A>G
  hgvsp: ENSP00000425956.2:p.Asp3780Gly
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-5383T>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-4910T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 9454
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 9.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 11910
  bin: 2.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13638
  bin: 1.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 1.75e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 3.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11517
  bin: 2.25e1
  variant carriers: 58
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 7770
  bin: 9.75e1
  variant carriers: 299
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3096
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1489
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2458
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.75e1
  variant carriers: 1
hgvs: p.Asp3731Gly
num of homozygotes: 2
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

17-78333999-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78333999
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78333999
    reference: chr 17
allele count: 162
allele frequency: 1.602849510240427e-3
allele num: 101070
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-4911G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11193C>T
  hgvsp: ENST00000582970.1:c.11193C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11340C>T
  hgvsp: ENST00000508628.2:c.11340C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-5384G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5412C>T
  hgvsp: ENST00000336301.6:c.5412C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.522C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000560694
  gene symbol: RNF213
  hgvsc: ENST00000560694.1:n.449C>T
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11187
  bin: 2.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11515
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 9.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 14084
  bin: 1.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9704
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 1.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7604
  bin: 9.75e1
  variant carriers: 148
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1531
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3200
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17903
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2411
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp3731Asp
num of homozygotes: 6
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

17-78333999-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78333999
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78333999
    reference: chr 17
allele count: 1
allele frequency: 9.894132779261897e-6
allele num: 101070
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5412C>G
  hgvsp: ENSP00000338218.6:p.Asp1804Glu
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11193C>G
  hgvsp: ENSP00000464087.1:p.Asp3731Glu
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-4911G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-5384G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11340C>G
  hgvsp: ENSP00000425956.2:p.Asp3780Glu
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.522C>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000560694
  gene symbol: RNF213
  hgvsc: ENST00000560694.1:n.449C>G
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14084
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11515
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11187
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9704
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1531
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19407
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3299
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17903
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp3731Glu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-78334000-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78334000
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78334000
    reference: chr 17
allele count: 1
allele frequency: 9.965122072745391e-6
allele num: 100350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5413G>A
  hgvsp: ENSP00000338218.6:p.Ala1805Thr
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11194G>A
  hgvsp: ENSP00000464087.1:p.Ala3732Thr
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.523G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000560694
  gene symbol: RNF213
  hgvsc: ENST00000560694.1:n.450G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11341G>A
  hgvsp: ENSP00000425956.2:p.Ala3781Thr
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-4912C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-5385C>T
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 11113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14506
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10946
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9966
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3318
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7514
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala3732Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-78334024-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78334024
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78334024
    reference: chr 17
allele count: 1
allele frequency: 1.102633087813699e-5
allele num: 90692
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11347+18C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000560694
  gene symbol: RNF213
  hgvsc: ENST00000560694.1:n.474C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-5409G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.529+18C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5419+18C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11200+18C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-4936G>A
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13751
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21154
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4682
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23811
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5005
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

17-78334027-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78334027
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78334027
    reference: chr 17
allele count: 1
allele frequency: 1.118443127166983e-5
allele num: 89410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-5412C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11200+21G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11347+21G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000560694
  gene symbol: RNF213
  hgvsc: ENST00000560694.1:n.477G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5419+21G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-4939C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.529+21G>A
  variant of: http://identifiers.org/hgnc/14539
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14029
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5098
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21692
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7508
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6983
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5208
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2790
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23645
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ

http://identifiers.org/exac.variant/17-78334032-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78334032
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78334032
    reference: chr 17
allele count: 1
allele frequency: 1.13445568816082e-5
allele num: 88148
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000560694
  gene symbol: RNF213
  hgvsc: ENST00000560694.1:n.482A>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.529+26A>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5419+26A>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-4944T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11347+26A>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-5417T>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11200+26A>C
  variant of: http://identifiers.org/hgnc/14539
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5384
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21842
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14509
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23775
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6125
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5357
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7508
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: A
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum

17-78334032-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78334032
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78334032
    reference: chr 17
allele count: 1
allele frequency: 1.13445568816082e-5
allele num: 88148
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000560694
  gene symbol: RNF213
  hgvsc: ENST00000560694.1:n.482A>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-4944T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5419+26A>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.529+26A>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-5417T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11347+26A>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11200+26A>G
  variant of: http://identifiers.org/hgnc/14539
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5384
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21842
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14509
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2974
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2140
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6125
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23775
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5357
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

17-78334051-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78334051
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78334051
    reference: chr 17
allele count: 1
allele frequency: 1.258114840722661e-5
allele num: 79484
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-4963G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000560694
  gene symbol: RNF213
  hgvsc: ENST00000560694.1:n.501C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-5436G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11347+45C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11200+45C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5419+45C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.529+45C>T
  variant of: http://identifiers.org/hgnc/14539
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7358
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17676
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19346
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6549
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4001
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2893
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2405
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3819
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5426
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-78334057-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78334057
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78334057
    reference: chr 17
allele count: 1316
allele frequency: 1.705281708391645e-2
allele num: 77172
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5419+51G>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-5442C>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-4969C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.529+51G>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11347+51G>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11200+51G>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000560694
  gene symbol: RNF213
  hgvsc: ENST00000560694.1:n.507G>T
  variant of: http://identifiers.org/hgnc/14539
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 7272
  bin: 1.75e1
  variant carriers: 205
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 18460
  bin: 7.5e0
  variant carriers: 416
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 3.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 18641
  bin: 1.25e1
  variant carriers: 460
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 3.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 8.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 2.5e0
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 8.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 2.75e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 9.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 2.25e1
  variant carriers: 91
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.75e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 8.25e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 5.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 4.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 3785
  bin: 3.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 3673
  bin: 7.5e0
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 6267
  bin: 1.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 6452
  bin: 3.25e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 7.75e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 6.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 8.75e1
  variant carriers: 64
genotype quality: GenotypeQuality
  all individuals: 8446
  bin: 9.75e1
  variant carriers: 1171
num of homozygotes: 105
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ

17-78335484-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78335484
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78335484
    reference: chr 17
allele count: 6
allele frequency: 5.051610621853268e-5
allele num: 118774
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-6869G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11201-50C>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-6396G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5420-50C>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.530-50C>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11348-50C>G
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6698
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2924
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15566
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7200
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11525
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2732
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4689
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1924
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14341
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7296
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

17-78335484-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78335484
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78335484
    reference: chr 17
allele count: 70
allele frequency: 5.893545725495479e-4
allele num: 118774
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-6396G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-6869G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5420-50C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.530-50C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11201-50C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11348-50C>T
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15566
  bin: 2.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2924
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7200
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6698
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11525
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14341
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7296
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14955
  bin: 9.75e1
  variant carriers: 67
genotype quality: GenotypeQuality
  all individuals: 3935
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 1
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP

17-78335488-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78335488
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78335488
    reference: chr 17
allele count: 1
allele frequency: 8.348778573694668e-6
allele num: 119778
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11201-46A>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-6400T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5420-46A>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-6873T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11348-46A>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.530-46A>G
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6752
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3981
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16601
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4774
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7847
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2793
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

17-78335496-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78335496
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78335496
    reference: chr 17
allele count: 1
allele frequency: 8.328891257995735e-6
allele num: 120064
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11348-38G>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5420-38G>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11201-38G>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-6408C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.530-38G>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-6881C>G
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6767
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9616
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2804
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1974
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8051
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18201
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

17-78335498-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78335498
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78335498
    reference: chr 17
allele count: 2
allele frequency: 1.665112561609165e-5
allele num: 120112
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11201-36C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-6883G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5420-36C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-6410G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11348-36C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.530-36C>T
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6784
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11869
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1974
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4016
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2802
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18290
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

17-78335499-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78335499
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78335499
    reference: chr 17
allele count: 4
allele frequency: 3.327399470943484e-5
allele num: 120214
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5420-35G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-6411C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-6884C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11201-35G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.530-35G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11348-35G>A
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9765
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16548
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6782
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4843
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14952
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1980
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/17-78335509-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78335509
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78335509
    reference: chr 17
allele count: 26
allele frequency: 2.154993783671778e-4
allele num: 120650
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5420-25C>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-6894G>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11201-25C>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.530-25C>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-6421G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11348-25C>A
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11994
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6802
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 16850
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10088
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14976
  bin: 9.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8230
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1995
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3667
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ

17-78335510-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78335510
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78335510
    reference: chr 17
allele count: 5
allele frequency: 4.143463272341554e-5
allele num: 120672
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5420-24C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11348-24C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-6422G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11201-24C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-6895G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.530-24C>T
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12015
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8247
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3672
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4873
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19173
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14956
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD

17-78335511-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78335511
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78335511
    reference: chr 17
allele count: 2
allele frequency: 1.656506758547575e-5
allele num: 120736
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-6423C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.530-23G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5420-23G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11348-23G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-6896C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11201-23G>A
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16911
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6814
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8252
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3677
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19210
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14957
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4877
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1996
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

17-78335523-CCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78335523
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78335521
    reference: chr 17
allele count: 1
allele frequency: 8.258865892535638e-6
allele num: 121082
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.530-6_530-5delCT
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5420-6_5420-5delCT
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-6910_191-6909delAG
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-6437_191-6436delAG
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11201-6_11201-5delCT
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11348-6_11348-5delCT
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6815
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12081
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2352
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4911
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8326
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14967
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4068
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: CCT
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/17-78335528-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78335528
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78335528
    reference: chr 17
allele count: 78
allele frequency: 6.438299628559636e-4
allele num: 121150
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-6913G>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11348-6C>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.530-6C>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5420-6C>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11201-6C>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-6440G>T
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 17081
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 12077
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6818
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 4.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2827
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4068
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8332
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2002
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15020
  bin: 9.75e1
  variant carriers: 78
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4905
  bin: 7.75e1
  variant carriers: 0
hgvs: c.11201-6C>A
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-78335533-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78335533
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78335533
    reference: chr 17
allele count: 1
allele frequency: 8.249327679794096e-6
allele num: 121222
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.530-1G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5420-1G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-6445C>T
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11201-1G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11348-1G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-6918C>T
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6828
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2832
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4921
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19612
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8358
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4080
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3703
  bin: 7.25e1
  variant carriers: 0
hgvs: c.11201-1G>A
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

17-78335540-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78335540
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78335540
    reference: chr 17
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5426C>T
  hgvsp: ENSP00000338218.6:p.Pro1809Leu
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11354C>T
  hgvsp: ENSP00000425956.2:p.Pro3785Leu
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-6452G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-6925G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11207C>T
  hgvsp: ENSP00000464087.1:p.Pro3736Leu
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.536C>T
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6827
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14960
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4924
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4085
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19637
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2834
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro3736Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ

17-78335541-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78335541
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78335541
    reference: chr 17
allele count: 5
allele frequency: 4.122963256151461e-5
allele num: 121272
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5427C>G
  hgvsp: ENST00000336301.6:c.5427C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11208C>G
  hgvsp: ENST00000582970.1:c.11208C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.537C>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-6453G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-6926G>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11355C>G
  hgvsp: ENST00000508628.2:c.11355C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6830
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19643
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2832
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4920
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro3736Pro
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ

17-78335543-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78335543
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78335543
    reference: chr 17
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5429A>G
  hgvsp: ENSP00000338218.6:p.Lys1810Arg
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.539A>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-6455T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11210A>G
  hgvsp: ENSP00000464087.1:p.Lys3737Arg
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-6928T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11357A>G
  hgvsp: ENSP00000425956.2:p.Lys3786Arg
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6824
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17188
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12123
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19657
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2009
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys3737Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-78335544-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78335544
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78335544
    reference: chr 17
allele count: 3
allele frequency: 2.473370049137618e-5
allele num: 121292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11358G>A
  hgvsp: ENST00000508628.2:c.11358G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-6929C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.540G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5430G>A
  hgvsp: ENST00000336301.6:c.5430G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-6456C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11211G>A
  hgvsp: ENST00000582970.1:c.11211G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6824
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19647
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  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: 3718
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2833
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4087
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys3737Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-78335547-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78335547
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78335547
    reference: chr 17
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-6932C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5433G>A
  hgvsp: ENST00000336301.6:c.5433G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-6459C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11361G>A
  hgvsp: ENST00000508628.2:c.11361G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11214G>A
  hgvsp: ENST00000582970.1:c.11214G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.543G>A
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10292
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6823
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2832
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8365
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4929
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3721
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Lys3738Lys
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/17-78335550-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78335550
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78335550
    reference: chr 17
allele count: 5
allele frequency: 4.121264074116813e-5
allele num: 121322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5436C>A
  hgvsp: ENSP00000338218.6:p.Phe1812Leu
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.546C>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11364C>A
  hgvsp: ENSP00000425956.2:p.Phe3788Leu
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11217C>A
  hgvsp: ENSP00000464087.1:p.Phe3739Leu
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-6935G>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-6462G>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6823
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12130
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2009
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8363
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3724
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4928
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Phe3739Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

17-78335551-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78335551
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78335551
    reference: chr 17
allele count: 4
allele frequency: 3.296793867963405e-5
allele num: 121330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-6936C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11365G>A
  hgvsp: ENSP00000425956.2:p.Val3789Met
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11218G>A
  hgvsp: ENSP00000464087.1:p.Val3740Met
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5437G>A
  hgvsp: ENSP00000338218.6:p.Val1813Met
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.547G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-6463C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12131
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6825
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19679
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2011
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3727
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8368
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14959
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val3740Met
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum

17-78335552-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78335552
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78335552
    reference: chr 17
allele count: 2
allele frequency: 1.648396933981703e-5
allele num: 121330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-6937A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11366T>C
  hgvsp: ENSP00000425956.2:p.Val3789Ala
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.548T>C
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11219T>C
  hgvsp: ENSP00000464087.1:p.Val3740Ala
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-6464A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5438T>C
  hgvsp: ENSP00000338218.6:p.Val1813Ala
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17212
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12126
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6825
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2832
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3726
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8368
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4929
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val3740Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

17-78335554-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78335554
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78335554
    reference: chr 17
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.550G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-6939C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5440G>A
  hgvsp: ENSP00000338218.6:p.Asp1814Asn
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11368G>A
  hgvsp: ENSP00000425956.2:p.Asp3790Asn
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-6466C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11221G>A
  hgvsp: ENSP00000464087.1:p.Asp3741Asn
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12130
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10278
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6826
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17223
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8369
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4933
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2832
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp3741Asn
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD

17-78335564-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78335564
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78335564
    reference: chr 17
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11378A>G
  hgvsp: ENSP00000425956.2:p.Gln3793Arg
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.560A>G
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5450A>G
  hgvsp: ENSP00000338218.6:p.Gln1817Arg
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11231A>G
  hgvsp: ENSP00000464087.1:p.Gln3744Arg
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-6949T>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-6476T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6826
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14960
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19690
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4090
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln3744Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-78335573-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78335573
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78335573
    reference: chr 17
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11387C>A
  hgvsp: ENSP00000425956.2:p.Pro3796His
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-6958G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.569C>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-6485G>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11240C>A
  hgvsp: ENSP00000464087.1:p.Pro3747His
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5459C>A
  hgvsp: ENSP00000338218.6:p.Pro1820His
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6828
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14964
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3724
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19666
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8352
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2012
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro3747His
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP

17-78335573-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78335573
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78335573
    reference: chr 17
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5459C>T
  hgvsp: ENSP00000338218.6:p.Pro1820Leu
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11240C>T
  hgvsp: ENSP00000464087.1:p.Pro3747Leu
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11387C>T
  hgvsp: ENSP00000425956.2:p.Pro3796Leu
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-6485G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.569C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-6958G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6828
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14964
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3724
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2012
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4938
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro3747Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum

17-78335580-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78335580
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78335580
    reference: chr 17
allele count: 2
allele frequency: 1.64774506088418e-5
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-6492G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11247C>T
  hgvsp: ENST00000582970.1:c.11247C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11394C>T
  hgvsp: ENST00000508628.2:c.11394C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.576C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-6965G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5466C>T
  hgvsp: ENST00000336301.6:c.5466C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12139
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10226
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2011
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14965
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 19636
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4938
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8343
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly3749Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

17-78335596-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78335596
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78335596
    reference: chr 17
allele count: 2
allele frequency: 1.647690761397901e-5
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.592C>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-6981G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11263C>T
  hgvsp: ENSP00000464087.1:p.Leu3755Phe
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5482C>T
  hgvsp: ENSP00000338218.6:p.Leu1828Phe
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-6508G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11410C>T
  hgvsp: ENSP00000425956.2:p.Leu3804Phe
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6825
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19656
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2832
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4939
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu3755Phe
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

17-78335597-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78335597
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78335597
    reference: chr 17
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-6509A>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11264T>A
  hgvsp: ENSP00000464087.1:p.Leu3755His
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-6982A>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5483T>A
  hgvsp: ENSP00000338218.6:p.Leu1828His
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11411T>A
  hgvsp: ENSP00000425956.2:p.Leu3804His
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.593T>A
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17283
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6826
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2832
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14960
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8344
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu3755His
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/17-78335598-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78335598
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78335598
    reference: chr 17
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11412C>A
  hgvsp: ENST00000508628.2:c.11412C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11265C>A
  hgvsp: ENST00000582970.1:c.11265C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-6983G>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5484C>A
  hgvsp: ENST00000336301.6:c.5484C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.594C>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-6510G>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6827
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17287
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12156
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10166
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3686
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2832
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19601
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8340
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14960
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu3755Leu
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

17-78335600-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78335600
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78335600
    reference: chr 17
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11267A>G
  hgvsp: ENSP00000464087.1:p.His3756Arg
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5486A>G
  hgvsp: ENSP00000338218.6:p.His1829Arg
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11414A>G
  hgvsp: ENSP00000425956.2:p.His3805Arg
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-6985T>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-6512T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.596A>G
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12146
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17289
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6825
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4936
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19667
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2832
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4079
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8341
  bin: 6.75e1
  variant carriers: 0
hgvs: p.His3756Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS

17-78335605-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78335605
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78335605
    reference: chr 17
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11419G>A
  hgvsp: ENSP00000425956.2:p.Glu3807Lys
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5491G>A
  hgvsp: ENSP00000338218.6:p.Glu1831Lys
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11272G>A
  hgvsp: ENSP00000464087.1:p.Glu3758Lys
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.601G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-6990C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-6517C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6829
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12149
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14964
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19662
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4935
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2831
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu3758Lys
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

17-78335607-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78335607
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78335607
    reference: chr 17
allele count: 2
allele frequency: 1.64774506088418e-5
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-6519C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11274G>A
  hgvsp: ENST00000582970.1:c.11274G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-6992C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5493G>A
  hgvsp: ENST00000336301.6:c.5493G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11421G>A
  hgvsp: ENST00000508628.2:c.11421G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.603G>A
  variant of: http://identifiers.org/hgnc/14539
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12143
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6829
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8336
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19648
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2009
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14963
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4934
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu3758Glu
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

17-78335610-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78335610
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78335610
    reference: chr 17
allele count: 6015
allele frequency: 4.956573330916163e-2
allele num: 121354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11424G>A
  hgvsp: ENST00000508628.2:c.11424G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.606G>A
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11277G>A
  hgvsp: ENST00000582970.1:c.11277G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5496G>A
  hgvsp: ENST00000336301.6:c.5496G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-6995C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-6522C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6269
  bin: 3.75e1
  variant carriers: 236
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 5.75e1
  variant carriers: 600
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 6.75e1
  variant carriers: 461
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11378
  bin: 3.25e1
  variant carriers: 105
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.75e1
  variant carriers: 167
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16551
  bin: 2.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.25e1
  variant carriers: 623
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 5.25e1
  variant carriers: 558
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 4.25e1
  variant carriers: 351
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 7.75e1
  variant carriers: 280
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 9.75e1
  variant carriers: 1161
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.25e1
  variant carriers: 134
genotype depth: GenotypeDepth
  all individuals: 9490
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 7.25e1
  variant carriers: 375
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 8.25e1
  variant carriers: 231
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 4.75e1
  variant carriers: 492
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1748
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3731
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17548
  bin: 9.75e1
  variant carriers: 5819
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19047
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro3759Pro
num of homozygotes: 188
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-78335613-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78335613
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78335613
    reference: chr 17
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000425956
  ensembl transcript: ENST00000508628
  gene symbol: RNF213
  hgvsc: ENST00000508628.2:c.11427G>T
  hgvsp: ENSP00000425956.2:p.Gln3809His
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000464087
  ensembl transcript: ENST00000582970
  gene symbol: RNF213
  hgvsc: ENST00000582970.1:c.11280G>T
  hgvsp: ENSP00000464087.1:p.Gln3760His
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173821
  ensembl protein: ENSP00000338218
  ensembl transcript: ENST00000336301
  gene symbol: RNF213
  hgvsc: ENST00000336301.6:c.5499G>T
  hgvsp: ENSP00000338218.6:p.Gln1833His
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173821
  ensembl transcript: ENST00000558116
  gene symbol: RNF213
  hgvsc: ENST00000558116.1:n.609G>T
  variant of: http://identifiers.org/hgnc/14539
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000575034
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000575034.1:n.191-6525C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263069
  ensembl transcript: ENST00000572151
  gene symbol: CTD-2047H16.4
  hgvsc: ENST00000572151.1:n.191-6998C>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6781
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20678
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1924
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13675
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gln3760His
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

GenotypeQuality
all individuals: 145
bin: 2.5e0
variant carriers: 45

GenotypeQuality
all individuals: 665
bin: 5.25e1
variant carriers: 470

GenotypeQuality
all individuals: 85
bin: 1.75e1
variant carriers: 49

GenotypeQuality
all individuals: 687
bin: 8.75e1
variant carriers: 636

GenotypeQuality
all individuals: 561
bin: 4.75e1
variant carriers: 395

GenotypeQuality
all individuals: 464
bin: 3.75e1
variant carriers: 231

GenotypeQuality
all individuals: 811
bin: 7.25e1
variant carriers: 516

GenotypeQuality
all individuals: 2011
bin: 6.75e1
variant carriers: 829

GenotypeQuality
all individuals: 39535
bin: 9.75e1
variant carriers: 37785

East Asian
type: Population
allele count: 2914
allele frequency: 3.405797101449275e-1
allele num: 8556
num of homozygotes: 481

European (Non-Finnish)
type: Population
allele count: 39211
allele frequency: 5.925618086199601e-1
allele num: 66172
num of homozygotes: 11582

Latino
type: Population
allele count: 3884
allele frequency: 3.400455261775521e-1
allele num: 11422
num of homozygotes: 697

South Asian
type: Population
allele count: 8298
allele frequency: 5.074608610567515e-1
allele num: 16352
num of homozygotes: 2162

Other
type: Population
allele count: 519
allele frequency: 5.779510022271714e-1
allele num: 898
num of homozygotes: 150

African
type: Population
allele count: 3478
allele frequency: 3.382610387084225e-1
allele num: 10282
num of homozygotes: 587

European (Finnish)
type: Population
allele count: 4348
allele frequency: 6.617960426179604e-1
allele num: 6570
num of homozygotes: 1456

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.25e0

QD
type: SiteQuality
SIO_000300: 2.237e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e0

DP
type: SiteQuality
SIO_000300: 2.555078e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.0e-1

FS
type: SiteQuality
SIO_000300: 1.396e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.55e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-2

GenotypeQuality
all individuals: 35739
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1864
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 813
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1181
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 979
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.013590715015936e-5
allele num: 66516
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16344
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 1.514e0

MQRankSum
type: SiteQuality
SIO_000300: 3.21e-1

MQ
type: SiteQuality
SIO_000300: 5.93e1

QD
type: SiteQuality
SIO_000300: 2.642e1

VQSLOD
type: SiteQuality
SIO_000300: -2.062e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.926e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

DP
type: SiteQuality
SIO_000300: 1.984849e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.91e-1

GenotypeQuality
all individuals: 473
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36350
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2033
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1868
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7699
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 394
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502810255177181e-5
allele num: 66542
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16354
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 1.984799e6

MQRankSum
type: SiteQuality
SIO_000300: 5.03e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e0

VQSLOD
type: SiteQuality
SIO_000300: 4.01e0

QD
type: SiteQuality
SIO_000300: 1.455e1

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6563
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7699
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variant carriers: 1

GenotypeQuality
all individuals: 970
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502810255177181e-5
allele num: 66542
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e0

VQSLOD
type: SiteQuality
SIO_000300: 4.01e0

MQ
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SIO_000300: 5.978e1

QD
type: SiteQuality
SIO_000300: 1.455e1

MQRankSum
type: SiteQuality
SIO_000300: 5.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 1.984799e6

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1828
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.513825438807405e-5
allele num: 66544
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16340
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.91e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
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VQSLOD
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SIO_000300: 5.82e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1888
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GenotypeQuality
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variant carriers: 0

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16364
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502358703163967e-5
allele num: 66562
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.991763e6

QD
type: SiteQuality
SIO_000300: 1.25e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 1.969e0

MQRankSum
type: SiteQuality
SIO_000300: -1.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.1e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 422
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GenotypeQuality
all individuals: 7671
bin: 9.75e1
variant carriers: 10

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

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

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

African
type: Population
allele count: 10
allele frequency: 9.667440061871616e-4
allele num: 10344
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16358
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.16e0

FS
type: SiteQuality
SIO_000300: 1.281e0

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

QD
type: SiteQuality
SIO_000300: 1.37e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.993011e6

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1803
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GenotypeQuality
all individuals: 362
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501997656883655e-5
allele num: 66578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.517450682852807e-4
allele num: 6590
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.222344456667889e-4
allele num: 16362
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.61e-1

DP
type: SiteQuality
SIO_000300: 1.994057e6

MQRankSum
type: SiteQuality
SIO_000300: 9.6e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.44e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.552e1

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

GenotypeQuality
all individuals: 1850
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 373
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GenotypeQuality
all individuals: 289
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GenotypeQuality
all individuals: 6513
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 268
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GenotypeQuality
all individuals: 7646
bin: 9.75e1
variant carriers: 1

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.107243190423842e-5
allele num: 16374
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66594
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

DP
type: SiteQuality
SIO_000300: 1.99741e6

MQ
type: SiteQuality
SIO_000300: 5.953e1

QD
type: SiteQuality
SIO_000300: 1.216e1

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.715e0

FS
type: SiteQuality
SIO_000300: 1.155e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 183
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66618
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
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East Asian
type: Population
allele count: 1
allele frequency: 1.158211721102618e-4
allele num: 8634
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.95e-1

DP
type: SiteQuality
SIO_000300: 1.998937e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -8.110000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

FS
type: SiteQuality
SIO_000300: 9.196e0

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.276e1

MQRankSum
type: SiteQuality
SIO_000300: 5.31e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66618
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.654373431164318e-5
allele num: 10358
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.808e0

DP
type: SiteQuality
SIO_000300: 2.00107e6

MQ
type: SiteQuality
SIO_000300: 5.92e1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 5.84e-1

FS
type: SiteQuality
SIO_000300: 4.46e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66608
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African
type: Population
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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South Asian
type: Population
allele count: 1
allele frequency: 6.10798924993892e-5
allele num: 16372
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.52e-1

DP
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.059e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1824
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501366243281386e-5
allele num: 66606
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

South Asian
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num of homozygotes: 0

FS
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QD
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

DP
type: SiteQuality
SIO_000300: 2.003493e6

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 9.25e1
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GenotypeQuality
all individuals: 40013
bin: 6.25e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501366243281386e-5
allele num: 66606
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e0

DP
type: SiteQuality
SIO_000300: 2.003493e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.452e1

GenotypeQuality
all individuals: 1817
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 219
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GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501366243281386e-5
allele num: 66606
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16360
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.737619461337967e-4
allele num: 11510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.567e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQRankSum
type: SiteQuality
SIO_000300: -9.6e-2

FS
type: SiteQuality
SIO_000300: 8.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.41e-1

QD
type: SiteQuality
SIO_000300: 9.51e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 2.004373e6

MQ
type: SiteQuality
SIO_000300: 5.895e1

GenotypeQuality
all individuals: 798
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variant carriers: 0

GenotypeQuality
all individuals: 1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 128
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variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 2.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16362
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.691117677733357e-5
allele num: 11506
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.961e0

MQRankSum
type: SiteQuality
SIO_000300: 2.1e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.193e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.53e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.567e0

QD
type: SiteQuality
SIO_000300: 1.223e1

DP
type: SiteQuality
SIO_000300: 2.004314e6

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 13

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1769
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variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16352
num of homozygotes: 0

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

Latino
type: Population
allele count: 5
allele frequency: 4.347070074769605e-4
allele num: 11502
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.201634222542658e-4
allele num: 66576
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.167e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-3

DP
type: SiteQuality
SIO_000300: 2.00396e6

MQRankSum
type: SiteQuality
SIO_000300: 4.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

FS
type: SiteQuality
SIO_000300: 5.22e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e-1

GenotypeQuality
all individuals: 129
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 275
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 155
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variant carriers: 0

GenotypeQuality
all individuals: 1687
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16330
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503216884132043e-5
allele num: 66524
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

DP
type: SiteQuality
SIO_000300: 2.001731e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.34e-1

QD
type: SiteQuality
SIO_000300: 1.35e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e0

FS
type: SiteQuality
SIO_000300: 1.061e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.94e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 173
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7620
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
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variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.931247585940518e-4
allele num: 10356
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.226241569589209e-4
allele num: 16310
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66486
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.95e-1

QD
type: SiteQuality
SIO_000300: 1.094e1

DP
type: SiteQuality
SIO_000300: 2.001272e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.19e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7617
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16306
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504438092372499e-5
allele num: 66470
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.991e0

QD
type: SiteQuality
SIO_000300: 2.55e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.000615e6

MQ
type: SiteQuality
SIO_000300: 5.889e1

FS
type: SiteQuality
SIO_000300: 9.084e0

MQRankSum
type: SiteQuality
SIO_000300: 3.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 9.5e-1

GenotypeQuality
all individuals: 165
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.516847842452347e-5
allele num: 66418
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.94e-1

MQ
type: SiteQuality
SIO_000300: 5.927e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.19e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.91e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.997749e6

QD
type: SiteQuality
SIO_000300: 1.297e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.76e-1

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

GenotypeQuality
all individuals: 198
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505978735580254e-5
allele num: 66402
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16266
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.996938e6

MQ
type: SiteQuality
SIO_000300: 5.878e1

VQSLOD
type: SiteQuality
SIO_000300: -6.753e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.086e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.002e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 267
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GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 328
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16118
num of homozygotes: 0

African
type: Population
allele count: 293
allele frequency: 2.849085958770906e-2
allele num: 10284
num of homozygotes: 3

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

Latino
type: Population
allele count: 14
allele frequency: 1.228070175438597e-3
allele num: 11400
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.126126126126126e-3
allele num: 888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.046680372475511e-5
allele num: 66152
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.78e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.13e-1

FS
type: SiteQuality
SIO_000300: 5.31e-1

DP
type: SiteQuality
SIO_000300: 1.99435e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.08e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

QD
type: SiteQuality
SIO_000300: 1.226e1

GenotypeQuality
all individuals: 559
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1570
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 448
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7587
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 38733
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.220452848967405e-5
allele num: 16076
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.027550711474417e-5
allele num: 66060
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.983883e6

QD
type: SiteQuality
SIO_000300: 1.122e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.203e0

MQRankSum
type: SiteQuality
SIO_000300: 2.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 242
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1987
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5798
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
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GenotypeQuality
all individuals: 7584
bin: 9.75e1
variant carriers: 9

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.122700319294511e-5
allele num: 65770
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15984
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10206
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6450
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.650176678445229e-4
allele num: 11320
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.347e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

QD
type: SiteQuality
SIO_000300: 1.295e1

MQRankSum
type: SiteQuality
SIO_000300: 1.25e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

DP
type: SiteQuality
SIO_000300: 1.970564e6

FS
type: SiteQuality
SIO_000300: 5.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

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

GenotypeQuality
all individuals: 631
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 520
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variant carriers: 0

GenotypeQuality
all individuals: 149
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variant carriers: 0

GenotypeQuality
all individuals: 2982
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1388
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 491
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variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7570
bin: 9.75e1
variant carriers: 8

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65204
num of homozygotes: 0

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

African
type: Population
allele count: 8
allele frequency: 7.922360863537334e-4
allele num: 10098
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8438
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11218
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15804
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6372
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.4e-2

QD
type: SiteQuality
SIO_000300: 1.331e1

MQRankSum
type: SiteQuality
SIO_000300: 5.41e-1

DP
type: SiteQuality
SIO_000300: 1.945992e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.118e0

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

GenotypeQuality
all individuals: 687
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1267
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4496
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1178
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7562
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 555
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variant carriers: 0

GenotypeQuality
all individuals: 933
bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 2.032933523073795e-4
allele num: 9838
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10830
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6190
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63530
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.3e-2

FS
type: SiteQuality
SIO_000300: 2.261e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.58e-1

QD
type: SiteQuality
SIO_000300: 1.281e1

MQ
type: SiteQuality
SIO_000300: 5.933e1

DP
type: SiteQuality
SIO_000300: 1.877869e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.291e0

GenotypeQuality
all individuals: 361
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 501
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1836
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 751
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 502
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variant carriers: 0

GenotypeQuality
all individuals: 823
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variant carriers: 0

GenotypeQuality
all individuals: 3609
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variant carriers: 0

GenotypeQuality
all individuals: 11150
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10060
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9390
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5824
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7746
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60288
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.79532481652623e-5
allele num: 14716
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.81e-1

FS
type: SiteQuality
SIO_000300: 2.923e0

DP
type: SiteQuality
SIO_000300: 1.766053e6

MQ
type: SiteQuality
SIO_000300: 5.935e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.917e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -8.969e-1

QD
type: SiteQuality
SIO_000300: 1.46e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.167e0

GenotypeQuality
all individuals: 2156
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
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variant carriers: 0

GenotypeQuality
all individuals: 2222
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 770
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variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
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GenotypeQuality
all individuals: 26176
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7549
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1004
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3202
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9240
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7616
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59218
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5728
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.046245140167792e-4
allele num: 9774
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.727517e6

MQRankSum
type: SiteQuality
SIO_000300: 4.01e-1

FS
type: SiteQuality
SIO_000300: 6.959e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 9.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.860000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.3e-2

GenotypeQuality
all individuals: 20181
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 238
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 371
bin: 8.25e1
variant carriers: 4

GenotypeQuality
all individuals: 45
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3195
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17399
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 790
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 9.25e1
variant carriers: 1

Latino
type: Population
allele count: 13
allele frequency: 1.426064063185608e-3
allele num: 9116
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14058
num of homozygotes: 0

African
type: Population
allele count: 289
allele frequency: 3.264798915499322e-2
allele num: 8852
num of homozygotes: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.320280910832092e-5
allele num: 56388
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5466
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.31578947368421e-3
allele num: 760
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.315e1

VQSLOD
type: SiteQuality
SIO_000300: 4.79e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

FS
type: SiteQuality
SIO_000300: 6.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.55e-1

DP
type: SiteQuality
SIO_000300: 1.617493e6

GenotypeQuality
all individuals: 19407
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 63
bin: 2.5e0
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GenotypeQuality
all individuals: 257
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 177
bin: 8.75e1
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GenotypeQuality
all individuals: 672
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 616
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variant carriers: 1

GenotypeQuality
all individuals: 608
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variant carriers: 1

GenotypeQuality
all individuals: 3299
bin: 3.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 15
allele frequency: 2.115655853314528e-3
allele num: 7090
num of homozygotes: 0

South Asian
type: Population
allele count: 141
allele frequency: 1.007430694484138e-2
allele num: 13996
num of homozygotes: 6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.352363960749331e-5
allele num: 56050
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.322751322751323e-3
allele num: 756
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.209456473707468e-4
allele num: 9052
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.351e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e0

VQSLOD
type: SiteQuality
SIO_000300: 4.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.26e-2

DP
type: SiteQuality
SIO_000300: 1.604847e6

MQRankSum
type: SiteQuality
SIO_000300: 1.53e-1

QD
type: SiteQuality
SIO_000300: 1.328e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.84e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 128
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
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GenotypeQuality
all individuals: 3200
bin: 2.75e1
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GenotypeQuality
all individuals: 792
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 608
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GenotypeQuality
all individuals: 2411
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GenotypeQuality
all individuals: 614
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variant carriers: 0

GenotypeQuality
all individuals: 7604
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 672
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.410437235543018e-4
allele num: 7090
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56050
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9052
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5432
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13996
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.72e-1

QD
type: SiteQuality
SIO_000300: 1.328e1

FS
type: SiteQuality
SIO_000300: 1.351e0

VQSLOD
type: SiteQuality
SIO_000300: 4.52e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.604847e6

MQRankSum
type: SiteQuality
SIO_000300: 1.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.26e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.84e-1

GenotypeQuality
all individuals: 1542
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18846
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
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GenotypeQuality
all individuals: 18375
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variant carriers: 0

GenotypeQuality
all individuals: 2341
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variant carriers: 0

GenotypeQuality
all individuals: 3386
bin: 3.25e1
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GenotypeQuality
all individuals: 631
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 777
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55696
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.206687806284232e-5
allele num: 13876
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8962
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7018
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5408
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.62e0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

FS
type: SiteQuality
SIO_000300: 3.352e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

DP
type: SiteQuality
SIO_000300: 1.589208e6

VQSLOD
type: SiteQuality
SIO_000300: -3.128e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

GenotypeQuality
all individuals: 634
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8570
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7510
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 690
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.98294665873488e-5
allele num: 50430
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12930
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7700
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6188
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4846
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 2.544e1

DP
type: SiteQuality
SIO_000300: 1.396067e6

MQRankSum
type: SiteQuality
SIO_000300: 6.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 2.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.522e0

GenotypeQuality
all individuals: 1805
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 672
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GenotypeQuality
all individuals: 1092
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6096
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4776
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12778
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7804
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 686
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.012153406575717e-5
allele num: 49698
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.055e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

QD
type: SiteQuality
SIO_000300: 1.379e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

DP
type: SiteQuality
SIO_000300: 1.374186e6

FS
type: SiteQuality
SIO_000300: 8.433999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 6353
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2140
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1035
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.040649742878132e-5
allele num: 49004
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4698
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7412
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12678
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7682
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5996
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.128e0

QD
type: SiteQuality
SIO_000300: 1.005e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.03e0

DP
type: SiteQuality
SIO_000300: 1.354487e6

VQSLOD
type: SiteQuality
SIO_000300: -1.996e0

MQ
type: SiteQuality
SIO_000300: 5.833e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.26e0

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

GenotypeQuality
all individuals: 305
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1060
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1035
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 117
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7508
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6353
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7682
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4698
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.040649742878132e-5
allele num: 49004
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5996
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7412
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12678
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.354487e6

FS
type: SiteQuality
SIO_000300: 3.128e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.03e0

MQ
type: SiteQuality
SIO_000300: 5.833e1

VQSLOD
type: SiteQuality
SIO_000300: -1.996e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.26e0

QD
type: SiteQuality
SIO_000300: 1.005e1

GenotypeQuality
all individuals: 18288
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 510
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variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3830
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7509
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 1.423284941645317e-4
allele num: 7026
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4232
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44196
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6318
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5162
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11920
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

MQ
type: SiteQuality
SIO_000300: 5.829e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.106e0

QD
type: SiteQuality
SIO_000300: 4.16e0

VQSLOD
type: SiteQuality
SIO_000300: -2.108e0

DP
type: SiteQuality
SIO_000300: 1.288819e6

FS
type: SiteQuality
SIO_000300: 5.643e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.262e0

GenotypeQuality
all individuals: 1607
bin: 6.25e1
variant carriers: 30

GenotypeQuality
all individuals: 183
bin: 5.75e1
variant carriers: 27

GenotypeQuality
all individuals: 634
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15118
bin: 2.25e1
variant carriers: 34

GenotypeQuality
all individuals: 5230
bin: 2.75e1
variant carriers: 29

GenotypeQuality
all individuals: 294
bin: 9.25e1
variant carriers: 53

GenotypeQuality
all individuals: 320
bin: 7.25e1
variant carriers: 24

GenotypeQuality
all individuals: 3150
bin: 1.25e1
variant carriers: 5

GenotypeQuality
all individuals: 1253
bin: 4.25e1
variant carriers: 11

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4946
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 3.278688524590164e-3
allele num: 610
num of homozygotes: 0

Latino
type: Population
allele count: 59
allele frequency: 9.820239680426099e-3
allele num: 6008
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 4.257493188010899e-4
allele num: 11744
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 3.730821247027002e-4
allele num: 42886
num of homozygotes: 0

African
type: Population
allele count: 1234
allele frequency: 1.798309530749053e-1
allele num: 6862
num of homozygotes: 105

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4116
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.91e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.141e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.69e-2

DP
type: SiteQuality
SIO_000300: 1.286455e6

QD
type: SiteQuality
SIO_000300: 1.556e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3935
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3380
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 922
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1156
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14955
bin: 9.75e1
variant carriers: 6

Latino
type: Population
allele count: 1
allele frequency: 8.697164724299878e-5
allele num: 11498
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6356
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.141940238921475e-5
allele num: 65126
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.013581998783702e-4
allele num: 9866
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.84e-1

FS
type: SiteQuality
SIO_000300: 8.734999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.03e-2

QD
type: SiteQuality
SIO_000300: 1.21e1

DP
type: SiteQuality
SIO_000300: 2.187549e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3380
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2732
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 190
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4689
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variant carriers: 0

GenotypeQuality
all individuals: 1924
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variant carriers: 0

GenotypeQuality
all individuals: 1127
bin: 4.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6356
num of homozygotes: 0

African
type: Population
allele count: 58
allele frequency: 5.878775592945469e-3
allele num: 9866
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.677425298651845e-5
allele num: 65126
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.218298834579927e-4
allele num: 11498
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.03e-2

FS
type: SiteQuality
SIO_000300: 8.734999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

QD
type: SiteQuality
SIO_000300: 1.21e1

DP
type: SiteQuality
SIO_000300: 2.187549e6

GenotypeQuality
all individuals: 379
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14940
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3547
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1966
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GenotypeQuality
all individuals: 572
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variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10076
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e0

FS
type: SiteQuality
SIO_000300: 7.875e0

VQSLOD
type: SiteQuality
SIO_000300: -7.06e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.011e0

QD
type: SiteQuality
SIO_000300: 1.057e1

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-2

MQ
type: SiteQuality
SIO_000300: 5.984e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.703e0

DP
type: SiteQuality
SIO_000300: 2.203998e6

GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
all individuals: 4833
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14950
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4011
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3608
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variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10146
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51851064475962e-5
allele num: 65854
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.886e1

DP
type: SiteQuality
SIO_000300: 2.220083e6

QD
type: SiteQuality
SIO_000300: 5.53e0

VQSLOD
type: SiteQuality
SIO_000300: -2.92e0

FS
type: SiteQuality
SIO_000300: 2.853e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.375e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

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

GenotypeQuality
all individuals: 4824
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8057
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14950
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3601
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

East Asian
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: 11520
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.035546246547066e-5
allele num: 65886
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10162
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.954e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.161e0

VQSLOD
type: SiteQuality
SIO_000300: 9.58e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.85e-1

DP
type: SiteQuality
SIO_000300: 2.22332e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

QD
type: SiteQuality
SIO_000300: 1.132e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 1.309e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

GenotypeQuality
all individuals: 242
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8110
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4024
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3620
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2808
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18446
bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.067040800849386e-5
allele num: 65930
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.53e-1

DP
type: SiteQuality
SIO_000300: 2.225579e6

FS
type: SiteQuality
SIO_000300: 4.062e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.05e-1

QD
type: SiteQuality
SIO_000300: 1.173e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.51e-1

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

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4054
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19127
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4868
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2823
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 26
allele frequency: 3.926069098816139e-4
allele num: 66224
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.345e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.49e-1

DP
type: SiteQuality
SIO_000300: 2.236242e6

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.33e-1

QD
type: SiteQuality
SIO_000300: 1.254e1

FS
type: SiteQuality
SIO_000300: 1.16e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
all individuals: 385
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1996
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4058
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2827
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.515610791148833e-4
allele num: 6598
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.019506008816958e-5
allele num: 66236
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.73370319001387e-4
allele num: 11536
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.49e-1

FS
type: SiteQuality
SIO_000300: 4.421e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.72e-1

DP
type: SiteQuality
SIO_000300: 2.236923e6

QD
type: SiteQuality
SIO_000300: 1.329e1

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

GenotypeQuality
all individuals: 59
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4060
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2827
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.017683626048645e-5
allele num: 66276
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.276e1

DP
type: SiteQuality
SIO_000300: 2.238068e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 3.599e0

MQRankSum
type: SiteQuality
SIO_000300: 1.34e0

VQSLOD
type: SiteQuality
SIO_000300: 6.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

GenotypeQuality
all individuals: 2001
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 43
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19516
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3700
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2832
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 5.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.72e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.04e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.268e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.927e0

DP
type: SiteQuality
SIO_000300: 2.243396e6

GenotypeQuality
all individuals: 136
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19550
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3703
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 73
allele frequency: 7.035466461063994e-3
allele num: 10376
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.00943481265587e-5
allele num: 66562
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 6.12e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.66e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.99e-2

QD
type: SiteQuality
SIO_000300: 1.276e1

DP
type: SiteQuality
SIO_000300: 2.246561e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.794e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.71e-1

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

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14959
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2006
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 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: 11562
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.188e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

DP
type: SiteQuality
SIO_000300: 2.245636e6

MQRankSum
type: SiteQuality
SIO_000300: 5.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.066e0

VQSLOD
type: SiteQuality
SIO_000300: -2.198e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.92e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e0

GenotypeQuality
all individuals: 3714
bin: 7.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 8362
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2009
bin: 8.75e1
variant carriers: 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: 66654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.669e0

QD
type: SiteQuality
SIO_000300: 1.076e1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.58e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.206e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.166e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

DP
type: SiteQuality
SIO_000300: 2.246462e6

FS
type: SiteQuality
SIO_000300: 8.67e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

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

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14962
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 72
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4084
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3711
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8360
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

East Asian
type: Population
allele count: 5
allele frequency: 5.785697755149271e-4
allele num: 8642
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
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: 66654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.643e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

DP
type: SiteQuality
SIO_000300: 2.247027e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.52e-1

FS
type: SiteQuality
SIO_000300: 5.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.66e-1

QD
type: SiteQuality
SIO_000300: 1.041e1

MQRankSum
type: SiteQuality
SIO_000300: -5.93e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

GenotypeQuality
all individuals: 14961
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8362
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 70
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3717
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4087
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2833
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4925
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 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: 11564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.246843e6

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

FS
type: SiteQuality
SIO_000300: 2.24e0

QD
type: SiteQuality
SIO_000300: 1.065e1

VQSLOD
type: SiteQuality
SIO_000300: 1.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.37e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.591e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.21e0

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

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

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2008
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14964
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 4924
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8358
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

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

African
type: Population
allele count: 3
allele frequency: 2.886836027713626e-4
allele num: 10392
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
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: 16508
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.57e0

MQRankSum
type: SiteQuality
SIO_000300: 3.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.976e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

DP
type: SiteQuality
SIO_000300: 2.246931e6

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.99e-1

QD
type: SiteQuality
SIO_000300: 1.099e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.28e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

GenotypeQuality
all individuals: 19662
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4090
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2010
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

FS
type: SiteQuality
SIO_000300: 6.631e0

VQSLOD
type: SiteQuality
SIO_000300: -8.434e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.535e0

QD
type: SiteQuality
SIO_000300: 1.239e1

MQ
type: SiteQuality
SIO_000300: 5.928e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.443e0

MQRankSum
type: SiteQuality
SIO_000300: -6.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.41e-2

DP
type: SiteQuality
SIO_000300: 2.24729e6

GenotypeQuality
all individuals: 4090
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14964
bin: 9.75e1
variant carriers: 5

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19665
bin: 6.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.780346820809249e-4
allele num: 8650
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: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.4e-2

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.253e1

FS
type: SiteQuality
SIO_000300: 1.725e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

DP
type: SiteQuality
SIO_000300: 2.24767e6

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2833
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4929
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4088
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
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

African
type: Population
allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.01e-1

FS
type: SiteQuality
SIO_000300: 5.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.63e-1

QD
type: SiteQuality
SIO_000300: 1.177e1

DP
type: SiteQuality
SIO_000300: 2.247866e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.15e-1

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2010
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 19669
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14960
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4088
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998770504093322e-5
allele num: 66694
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.54e-1

DP
type: SiteQuality
SIO_000300: 2.247667e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.21e0

QD
type: SiteQuality
SIO_000300: 1.445e1

VQSLOD
type: SiteQuality
SIO_000300: -8.091e-1

FS
type: SiteQuality
SIO_000300: 8.996e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e-1

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

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

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2009
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3724
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4090
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14959
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
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: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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: 1.64e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.073e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.38e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

FS
type: SiteQuality
SIO_000300: 2.797e0

DP
type: SiteQuality
SIO_000300: 2.247842e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

QD
type: SiteQuality
SIO_000300: 4.5e0

GenotypeQuality
all individuals: 8362
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 38
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4934
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2832
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3723
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

DP
type: SiteQuality
SIO_000300: 2.248082e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.168e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.641e0

VQSLOD
type: SiteQuality
SIO_000300: 1.58e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

QD
type: SiteQuality
SIO_000300: 1.199e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.03e-1

GenotypeQuality
all individuals: 4938
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 2830
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4089
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.893e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 6.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.3e-2

FS
type: SiteQuality
SIO_000300: 4.493e0

DP
type: SiteQuality
SIO_000300: 2.248525e6

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2830
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.387e1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 9.3e-2

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2829
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4087
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variant carriers: 0

GenotypeQuality
all individuals: 3716
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.241e1

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.389999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.090000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.619e0

VQSLOD
type: SiteQuality
SIO_000300: 4.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.3e-1

DP
type: SiteQuality
SIO_000300: 2.248548e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4085
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3687
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8348
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14960
bin: 9.75e1
variant carriers: 2

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

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

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

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

African
type: Population
allele count: 2
allele frequency: 1.923076923076923e-4
allele num: 10400
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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.15e-1

FS
type: SiteQuality
SIO_000300: 2.579e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.339e0

DP
type: SiteQuality
SIO_000300: 2.248762e6

QD
type: SiteQuality
SIO_000300: 1.288e1

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e-1

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

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2009
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19649
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4939
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3687
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4085
bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.24873e6

VQSLOD
type: SiteQuality
SIO_000300: 1.89e-1

QD
type: SiteQuality
SIO_000300: 9.859999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 4084
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 55
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4937
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2010
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

QD
type: SiteQuality
SIO_000300: 9.859999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.462e0

DP
type: SiteQuality
SIO_000300: 2.24885e6

MQ
type: SiteQuality
SIO_000300: 5.927e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.191e0

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

GenotypeQuality
all individuals: 32
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14966
bin: 9.75e1
variant carriers: 1

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

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

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

GenotypeQuality
all individuals: 2010
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3684
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.06e0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

QD
type: SiteQuality
SIO_000300: 5.7e0

DP
type: SiteQuality
SIO_000300: 2.248888e6

VQSLOD
type: SiteQuality
SIO_000300: -2.503e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.52e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.87e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 3683
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4077
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8335
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 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: 16512
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
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: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.486e0

DP
type: SiteQuality
SIO_000300: 2.248963e6

MQRankSum
type: SiteQuality
SIO_000300: 7.74e-1

QD
type: SiteQuality
SIO_000300: 1.15e1

MQ
type: SiteQuality
SIO_000300: 5.929e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.71e-1

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

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

GenotypeQuality
all individuals: 2831
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3682
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4076
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.98e-1

FS
type: SiteQuality
SIO_000300: 3.523e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.385e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.161e0

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-1

DP
type: SiteQuality
SIO_000300: 2.249068e6

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

GenotypeQuality
all individuals: 3410
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 32
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2490
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 4583
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7882
bin: 6.75e1
variant carriers: 1

Other
type: Population
allele count: 47
allele frequency: 5.187637969094923e-2
allele num: 906
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 258
allele frequency: 3.901996370235935e-2
allele num: 6612
num of homozygotes: 5

East Asian
type: Population
allele count: 219
allele frequency: 2.531791907514451e-2
allele num: 8650
num of homozygotes: 3

African
type: Population
allele count: 343
allele frequency: 3.298076923076923e-2
allele num: 10400
num of homozygotes: 2

Latino
type: Population
allele count: 322
allele frequency: 2.784503631961259e-2
allele num: 11564
num of homozygotes: 11

South Asian
type: Population
allele count: 1054
allele frequency: 6.383236434108527e-2
allele num: 16512
num of homozygotes: 41

European (Non-Finnish)
type: Population
allele count: 3772
allele frequency: 5.654324688952181e-2
allele num: 66710
num of homozygotes: 125

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.63e-2

DP
type: SiteQuality
SIO_000300: 2.474951e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.471e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: 6.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.08e-1

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

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4146
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3741
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2778
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5032
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8568
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.7e-2