16-20843625-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20843625
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20843625
    reference: chr 16
allele count: 1
allele frequency: 1.011326860841424e-5
allele num: 98880
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1262+44T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1262+44T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.118+44T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*857+44T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1262+44T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-28633A>G
  variant of: http://identifiers.org/hgnc/30541
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14249
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17854
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2184
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5040
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2755
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8150
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2269
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3493
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6555
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4280
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ

16-20843626-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20843626
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20843626
    reference: chr 16
allele count: 2
allele frequency: 2.032602951339485e-5
allele num: 98396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1262+45C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-28634G>C
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1262+45C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.118+45C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*857+45C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1262+45C>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17859
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13013
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8057
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5009
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3488
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4280
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2247
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2760
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6523
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

16-20844277-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20844277
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20844277
    reference: chr 16
allele count: 2
allele frequency: 1.660109235187675e-5
allele num: 120474
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.119-48G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1263-48G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*858-48G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1263-48G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1263-48G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-29285C>T
  variant of: http://identifiers.org/hgnc/30541
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8658
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29550
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3783
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6597
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41313
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

16-20844283-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20844283
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20844282
    reference: chr 16
allele count: 17
allele frequency: 1.410764966556572e-4
allele num: 120502
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.119-38delA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1263-38delA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1263-38delA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1263-38delA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-29292delT
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*858-38delA
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8667
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29661
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 14201
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41957
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6616
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: GA
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

16-20844286-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20844286
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20844286
    reference: chr 16
allele count: 3
allele frequency: 2.488552657774238e-5
allele num: 120552
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1263-39A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.119-39A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1263-39A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1263-39A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-29294T>C
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*858-39A>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29719
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14474
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42334
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3767
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1659
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1841
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

16-20844288-CTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20844288
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20844286
    reference: chr 16
allele count: 1
allele frequency: 8.296276631047985e-6
allele num: 120536
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1263-35_1263-34delGT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*858-35_*858-34delGT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1263-35_1263-34delGT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-29298_-256-29297delCA
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.119-35_119-34delGT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1263-35_1263-34delGT
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8686
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3764
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1841
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: CTG
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

16-20844302-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20844302
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20844302
    reference: chr 16
allele count: 16
allele frequency: 1.325161504058307e-4
allele num: 120740
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1263-23T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.119-23T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1263-23T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-29310A>G
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*858-23T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1263-23T>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8721
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43735
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6717
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

16-20844311-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20844311
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20844311
    reference: chr 16
allele count: 4
allele frequency: 3.308902602451897e-5
allele num: 120886
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-29319G>A
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*858-14C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1263-14C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1263-14C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1263-14C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.119-14C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30212
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3747
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1849
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6738
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44276
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

16-20844319-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20844319
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20844319
    reference: chr 16
allele count: 1
allele frequency: 8.259411599517651e-6
allele num: 121074
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1263-6T>C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*858-6T>C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1263-6T>C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1263-6T>C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.119-6T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-29327A>G
  variant of: http://identifiers.org/hgnc/30541
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44529
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1854
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6761
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
hgvs: c.1263-6T>C
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/16-20844321-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20844321
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20844321
    reference: chr 16
allele count: 1
allele frequency: 8.256547442121603e-6
allele num: 121116
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*858-4A>C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.119-4A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-29329T>G
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1263-4A>C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1263-4A>C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1263-4A>C
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8771
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6764
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3743
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
hgvs: c.1263-4A>C
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

16-20844322-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20844322
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20844322
    reference: chr 16
allele count: 290
allele frequency: 2.393924385009081e-3
allele num: 121140
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1263-3T>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1263-3T>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.119-3T>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*858-3T>A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1263-3T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-29330A>T
  variant of: http://identifiers.org/hgnc/30541
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30331
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8775
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 16028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 9.75e1
  variant carriers: 201
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3765
  bin: 9.75e1
  variant carriers: 288
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6765
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
hgvs: c.1263-3T>A
num of homozygotes: 2
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

16-20844322-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20844322
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20844322
    reference: chr 16
allele count: 3
allele frequency: 2.476473501733531e-5
allele num: 121140
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1263-3T>C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*858-3T>C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1263-3T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-29330A>G
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1263-3T>C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.119-3T>C
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30331
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16028
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1851
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44620
  bin: 6.25e1
  variant carriers: 0
hgvs: c.1263-3T>C
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

16-20844326-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20844326
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20844326
    reference: chr 16
allele count: 35
allele frequency: 2.888122390375126e-4
allele num: 121186
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*859G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1264G>A
  hgvsp: ENSP00000261377.6:p.Val422Ile
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-29334C>T
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1264G>A
  hgvsp: ENSP00000261378.8:p.Val422Ile
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1264G>A
  hgvsp: ENSP00000457616.1:p.Val422Ile
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.120G>A
  hgvsp: ENSP00000455867.1:p.Val41Ile
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16114
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30520
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8816
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44895
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1684
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val422Ile
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD

16-20844340-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20844340
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20844340
    reference: chr 16
allele count: 6
allele frequency: 4.946250741937611e-5
allele num: 121304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1278G>A
  hgvsp: ENST00000564274.1:c.1278G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1278G>A
  hgvsp: ENST00000348433.6:c.1278G>A(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1278G>A
  hgvsp: ENST00000261377.6:c.1278G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-29348C>T
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*873G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.134G>A
  hgvsp: ENST00000561474.1:c.134G>A(p.%3D)
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30593
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45029
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6810
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1864
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu426Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

16-20844362-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20844362
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20844362
    reference: chr 16
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*895C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1300C>G
  hgvsp: ENSP00000261378.8:p.Leu434Val
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1300C>G
  hgvsp: ENSP00000457616.1:p.Leu434Val
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1300C>G
  hgvsp: ENSP00000261377.6:p.Leu434Val
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-29370G>C
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.156C>G
  hgvsp: ENSP00000455867.1:p.Leu53Val
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44983
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6797
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu434Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD

16-20844374-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20844374
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20844374
    reference: chr 16
allele count: 3
allele frequency: 2.475043313257982e-5
allele num: 121210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1312C>T
  hgvsp: ENSP00000261378.8:p.Arg438Trp
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-29382G>A
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*907C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.168C>T
  hgvsp: ENSP00000455867.1:p.Arg57Trp
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1312C>T
  hgvsp: ENSP00000261377.6:p.Arg438Trp
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1312C>T
  hgvsp: ENSP00000457616.1:p.Arg438Trp
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8789
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1857
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44952
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg438Trp
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

16-20844375-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20844375
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20844375
    reference: chr 16
allele count: 6
allele frequency: 4.950413359515519e-5
allele num: 121202
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.169G>A
  hgvsp: ENSP00000455867.1:p.Arg57Gln
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*908G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-29383C>T
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1313G>A
  hgvsp: ENSP00000261377.6:p.Arg438Gln
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1313G>A
  hgvsp: ENSP00000457616.1:p.Arg438Gln
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1313G>A
  hgvsp: ENSP00000261378.8:p.Arg438Gln
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44967
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg438Gln
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

16-20844377-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20844377
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20844377
    reference: chr 16
allele count: 1
allele frequency: 8.250688932525866e-6
allele num: 121202
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1315G>A
  hgvsp: ENSP00000261377.6:p.Glu439Lys
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1315G>A
  hgvsp: ENSP00000457616.1:p.Glu439Lys
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.171G>A
  hgvsp: ENSP00000455867.1:p.Glu58Lys
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*910G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1315G>A
  hgvsp: ENSP00000261378.8:p.Glu439Lys
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-29385C>T
  variant of: http://identifiers.org/hgnc/30541
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44997
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu439Lys
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

16-20844383-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20844383
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20844383
    reference: chr 16
allele count: 1
allele frequency: 8.255184255712587e-6
allele num: 121136
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1321G>A
  hgvsp: ENSP00000261377.6:p.Asp441Asn
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.177G>A
  hgvsp: ENSP00000455867.1:p.Asp60Asn
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1321G>A
  hgvsp: ENSP00000261378.8:p.Asp441Asn
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*916G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-29391C>T
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1321G>A
  hgvsp: ENSP00000457616.1:p.Asp441Asn
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8744
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44938
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp441Asn
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

16-20844390-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20844390
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20844390
    reference: chr 16
allele count: 1
allele frequency: 8.260230295220631e-6
allele num: 121062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-29398C>T
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.184G>A
  hgvsp: ENSP00000455867.1:p.Gly62Asp
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1328G>A
  hgvsp: ENSP00000457616.1:p.Gly443Asp
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1328G>A
  hgvsp: ENSP00000261377.6:p.Gly443Asp
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*923G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1328G>A
  hgvsp: ENSP00000261378.8:p.Gly443Asp
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30543
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6773
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3410
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly443Asp
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/16-20844395-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20844395
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20844395
    reference: chr 16
allele count: 1
allele frequency: 8.272530236098013e-6
allele num: 120882
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*928C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.189C>A
  hgvsp: ENSP00000455867.1:p.Leu64Ile
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1333C>A
  hgvsp: ENSP00000261378.8:p.Leu445Ile
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1333C>A
  hgvsp: ENSP00000457616.1:p.Leu445Ile
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1333C>A
  hgvsp: ENSP00000261377.6:p.Leu445Ile
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-29403G>T
  variant of: http://identifiers.org/hgnc/30541
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8643
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44716
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu445Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

16-20844412-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20844412
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20844412
    reference: chr 16
allele count: 1
allele frequency: 8.311032063961702e-6
allele num: 120322
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1350T>C
  hgvsp: ENST00000564274.1:c.1350T>C(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1350T>C
  hgvsp: ENST00000261377.6:c.1350T>C(p.%3D)
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*945T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.206T>C
  hgvsp: ENST00000561474.1:c.206T>C(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1350T>C
  hgvsp: ENST00000348433.6:c.1350T>C(p.%3D)
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-29420A>G
  variant of: http://identifiers.org/hgnc/30541
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8318
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6533
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3394
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44324
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn450Asn
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

16-20844431-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20844431
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20844431
    reference: chr 16
allele count: 4
allele frequency: 3.383007155060133e-5
allele num: 118238
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.225C>T
  hgvsp: ENSP00000455867.1:p.Leu76Phe
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-29439G>A
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1369C>T
  hgvsp: ENSP00000261377.6:p.Leu457Phe
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1369C>T
  hgvsp: ENSP00000261378.8:p.Leu457Phe
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1369C>T
  hgvsp: ENSP00000457616.1:p.Leu457Phe
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*964C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2721
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5919
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu457Phe
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

16-20844437-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20844437
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20844437
    reference: chr 16
allele count: 1
allele frequency: 8.537376634907625e-6
allele num: 117132
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.231A>G
  hgvsp: ENSP00000455867.1:p.Asn78Asp
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1375A>G
  hgvsp: ENSP00000261378.8:p.Asn459Asp
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1375A>G
  hgvsp: ENSP00000261377.6:p.Asn459Asp
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*970A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-29445T>C
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1375A>G
  hgvsp: ENSP00000457616.1:p.Asn459Asp
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16485
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40567
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3858
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5701
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asn459Asp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

16-20844443-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20844443
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20844443
    reference: chr 16
allele count: 1
allele frequency: 8.668816533166892e-6
allele num: 115356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1381G>A
  hgvsp: ENSP00000261378.8:p.Glu461Lys
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.237G>A
  hgvsp: ENSP00000455867.1:p.Glu80Lys
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1381G>A
  hgvsp: ENSP00000261377.6:p.Glu461Lys
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1381G>A
  hgvsp: ENSP00000457616.1:p.Glu461Lys
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-29451C>T
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*976G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4697
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15861
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25162
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37390
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5747
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu461Lys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

16-20844448-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20844448
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20844448
    reference: chr 16
allele count: 4
allele frequency: 3.503670094423909e-5
allele num: 114166
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1383+3G>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*978+3G>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.239+3G>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1383+3G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-29456C>T
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1383+3G>A
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15447
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6335
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5808
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1498
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4904
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35927
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 7.75e1
  variant carriers: 0
hgvs: c.1383+3G>A
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ

16-20844449-AGT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20844449
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20844447
    reference: chr 16
allele count: 1
allele frequency: 8.770083491194836e-6
allele num: 114024
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*978+6_*978+7delTG
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1383+6_1383+7delTG
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1383+6_1383+7delTG
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1383+6_1383+7delTG
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.239+6_239+7delTG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-29459_-256-29458delAC
  variant of: http://identifiers.org/hgnc/30541
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6618
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35866
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3340
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4898
  bin: 6.75e1
  variant carriers: 0
hgvs: c.1383+6_1383+7delTG
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: AGT
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

16-20844460-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20844460
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20844460
    reference: chr 16
allele count: 1
allele frequency: 9.009983061231844e-6
allele num: 110988
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-29468C>T
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1383+15G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1383+15G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.239+15G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1383+15G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*978+15G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4818
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12646
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3331
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4038
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3328
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3529
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1806
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3488
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

16-20844464-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20844464
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20844464
    reference: chr 16
allele count: 1
allele frequency: 9.081332413091649e-6
allele num: 110116
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1383+19C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1383+19C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1383+19C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.239+19C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-29472G>C
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*978+19C>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14662
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12597
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4305
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3327
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12854
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2225
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

16-20844496-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20844496
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20844496
    reference: chr 16
allele count: 2
allele frequency: 2.019426886649569e-5
allele num: 99038
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*978+51G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1383+51G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.239+51G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1383+51G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1383+51G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-29504C>T
  variant of: http://identifiers.org/hgnc/30541
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 18443
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8563
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3566
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3317
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7098
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9042
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9984
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5561
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4307
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4504
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1531
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 1
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

http://identifiers.org/exac.variant/16-20851028-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20851028
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20851028
    reference: chr 16
allele count: 1
allele frequency: 8.328752519447637e-6
allele num: 120066
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1384-49A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1384-49A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.240-625A>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*979-49A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1384-49A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-36036T>G
  variant of: http://identifiers.org/hgnc/30541
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5533
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4255
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2164
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2445
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

16-20851029-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20851029
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20851029
    reference: chr 16
allele count: 75
allele frequency: 6.246148208604693e-4
allele num: 120074
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.240-624A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1384-48A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1384-48A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-36037T>C
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1384-48A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*979-48A>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5534
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 1.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 4255
  bin: 9.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4373
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4542
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2165
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1341
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4943
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39478
  bin: 9.75e1
  variant carriers: 73
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 1
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

16-20851055-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20851055
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20851055
    reference: chr 16
allele count: 2
allele frequency: 1.66143315223712e-5
allele num: 120378
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1384-22C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1384-22C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-36063G>A
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.240-598C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1384-22C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*979-22C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4888
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5769
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4598
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5534
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4374
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6930
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2648
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2352
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

16-20851057-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20851057
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20851057
    reference: chr 16
allele count: 4
allele frequency: 3.320659482973319e-5
allele num: 120458
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1384-20G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1384-20G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.240-596G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*979-20G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1384-20G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-36065C>T
  variant of: http://identifiers.org/hgnc/30541
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5534
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4887
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3173
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4375
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5768
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2647
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7161
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2516
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2351
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

16-20851059-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20851059
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20851059
    reference: chr 16
allele count: 1
allele frequency: 8.299995020002988e-6
allele num: 120482
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1384-18C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1384-18C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*979-18C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1384-18C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.240-594C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-36067G>C
  variant of: http://identifiers.org/hgnc/30541
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5534
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2179
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2524
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD

16-20851060-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20851060
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20851060
    reference: chr 16
allele count: 1
allele frequency: 8.295175525914129e-6
allele num: 120552
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1384-17T>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*979-17T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1384-17T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1384-17T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.240-593T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-36068A>C
  variant of: http://identifiers.org/hgnc/30541
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5534
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3336
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2352
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2184
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39422
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2647
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1341
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2543
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

16-20851061-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20851061
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20851061
    reference: chr 16
allele count: 1
allele frequency: 8.29462508294625e-6
allele num: 120560
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*979-16G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1384-16G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1384-16G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.240-592G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-36069C>G
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1384-16G>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5534
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4888
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2180
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7532
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2353
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2543
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2648
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

16-20851073-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20851073
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20851073
    reference: chr 16
allele count: 15
allele frequency: 1.241064336775218e-4
allele num: 120864
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-36081T>C
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*979-4A>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1384-4A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.240-580A>G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1384-4A>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1384-4A>G
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4620
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3783
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5534
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8247
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2176
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: c.1384-4A>G
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

16-20851077-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20851077
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20851077
    reference: chr 16
allele count: 1
allele frequency: 8.267469162340024e-6
allele num: 120956
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-36085C>T
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1384G>A
  hgvsp: ENSP00000261377.6:p.Val462Ile
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.240-576G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*979G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1384G>A
  hgvsp: ENSP00000457616.1:p.Val462Ile
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1384G>A
  hgvsp: ENSP00000261378.8:p.Val462Ile
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5534
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5770
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2358
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1341
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2582
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2647
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val462Ile
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

16-20851078-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20851078
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20851078
    reference: chr 16
allele count: 1
allele frequency: 8.266649031148734e-6
allele num: 120968
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1385T>A
  hgvsp: ENSP00000261378.8:p.Val462Asp
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1385T>A
  hgvsp: ENSP00000261377.6:p.Val462Asp
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*980T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-36086A>T
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1385T>A
  hgvsp: ENSP00000457616.1:p.Val462Asp
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.240-575T>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4629
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5534
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6197
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5769
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8429
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2589
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2173
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2358
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val462Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

16-20851084-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20851084
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20851084
    reference: chr 16
allele count: 1
allele frequency: 8.261458643138033e-6
allele num: 121044
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1391A>G
  hgvsp: ENSP00000457616.1:p.Glu464Gly
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1391A>G
  hgvsp: ENSP00000261377.6:p.Glu464Gly
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1391A>G
  hgvsp: ENSP00000261378.8:p.Glu464Gly
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-36092T>C
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*986A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.240-569A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5769
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4644
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5534
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2356
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1341
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8538
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39417
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu464Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/16-20851091-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20851091
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20851091
    reference: chr 16
allele count: 2
allele frequency: 1.650955077512341e-5
allele num: 121142
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-36099G>T
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1398C>A
  hgvsp: ENST00000564274.1:c.1398C>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.240-562C>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1398C>A
  hgvsp: ENST00000348433.6:c.1398C>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*993C>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1398C>A
  hgvsp: ENST00000261377.6:c.1398C>A(p.%3D)
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5771
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5534
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4678
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8725
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2616
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2180
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala466Ala
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS

http://identifiers.org/exac.variant/16-20851104-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20851104
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20851104
    reference: chr 16
allele count: 2
allele frequency: 1.649375711293276e-5
allele num: 121258
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1411C>A
  hgvsp: ENSP00000261377.6:p.Pro471Thr
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1411C>A
  hgvsp: ENSP00000457616.1:p.Pro471Thr
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.240-549C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1411C>A
  hgvsp: ENSP00000261378.8:p.Pro471Thr
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*1006C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-36112G>T
  variant of: http://identifiers.org/hgnc/30541
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5534
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8848
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2629
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2186
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1343
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2354
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro471Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

16-20851104-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20851104
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20851104
    reference: chr 16
allele count: 1
allele frequency: 8.246878556466378e-6
allele num: 121258
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*1006C>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1411C>G
  hgvsp: ENSP00000261377.6:p.Pro471Ala
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1411C>G
  hgvsp: ENSP00000261378.8:p.Pro471Ala
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1411C>G
  hgvsp: ENSP00000457616.1:p.Pro471Ala
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-36112G>C
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.240-549C>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5534
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39416
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8848
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro471Ala
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

16-20851108-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20851108
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20851108
    reference: chr 16
allele count: 2
allele frequency: 1.649158104787506e-5
allele num: 121274
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1415T>C
  hgvsp: ENSP00000457616.1:p.Leu472Pro
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.240-545T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-36116A>G
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1415T>C
  hgvsp: ENSP00000261378.8:p.Leu472Pro
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1415T>C
  hgvsp: ENSP00000261377.6:p.Leu472Pro
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*1010T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5769
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5536
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4894
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4681
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2185
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8877
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39416
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Leu472Pro
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

16-20851112-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20851112
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20851112
    reference: chr 16
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-36120A>T
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1419T>A
  hgvsp: ENSP00000261378.8:p.Phe473Leu
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*1014T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.240-541T>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1419T>A
  hgvsp: ENSP00000457616.1:p.Phe473Leu
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1419T>A
  hgvsp: ENSP00000261377.6:p.Phe473Leu
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5769
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5536
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4684
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8892
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2355
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39414
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Phe473Leu
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

16-20851112-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20851112
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20851112
    reference: chr 16
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1419T>G
  hgvsp: ENSP00000457616.1:p.Phe473Leu
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.240-541T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-36120A>C
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1419T>G
  hgvsp: ENSP00000261377.6:p.Phe473Leu
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1419T>G
  hgvsp: ENSP00000261378.8:p.Phe473Leu
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*1014T>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5536
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5769
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8892
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2355
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  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: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2186
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Phe473Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum

16-20851128-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20851128
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20851128
    reference: chr 16
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-36136G>C
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.240-525C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1435C>G
  hgvsp: ENSP00000457616.1:p.Gln479Glu
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1435C>G
  hgvsp: ENSP00000261378.8:p.Gln479Glu
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*1030C>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1435C>G
  hgvsp: ENSP00000261377.6:p.Gln479Glu
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4688
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5769
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5536
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8903
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2356
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2182
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39414
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gln479Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ

16-20851145-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20851145
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20851145
    reference: chr 16
allele count: 1
allele frequency: 8.244838730954422e-6
allele num: 121288
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1452C>T
  hgvsp: ENST00000564274.1:c.1452C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1452C>T
  hgvsp: ENST00000348433.6:c.1452C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-36153G>A
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1452C>T
  hgvsp: ENST00000261377.6:c.1452C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.240-508C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*1047C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3368
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5535
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4089
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39414
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2646
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8893
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2355
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala484Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

16-20851149-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20851149
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20851149
    reference: chr 16
allele count: 1
allele frequency: 8.246470510621453e-6
allele num: 121264
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1456T>C
  hgvsp: ENSP00000457616.1:p.Ser486Pro
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1456T>C
  hgvsp: ENSP00000261378.8:p.Ser486Pro
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.240-504T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1456T>C
  hgvsp: ENSP00000261377.6:p.Ser486Pro
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*1051T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-36157A>G
  variant of: http://identifiers.org/hgnc/30541
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3368
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4688
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5535
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5770
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2646
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2619
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2185
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser486Pro
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

16-20851151-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20851151
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20851151
    reference: chr 16
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*1053A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.240-502A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1458A>G
  hgvsp: ENST00000348433.6:c.1458A>G(p.%3D)
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-36159T>C
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1458A>G
  hgvsp: ENST00000261377.6:c.1458A>G(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1458A>G
  hgvsp: ENST00000564274.1:c.1458A>G(p.%3D)
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4685
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5771
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3368
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5535
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8867
  bin: 6.25e1
  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: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser486Ser
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

16-20851154-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20851154
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20851154
    reference: chr 16
allele count: 5
allele frequency: 4.123575304732215e-5
allele num: 121254
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1461T>A
  hgvsp: ENST00000348433.6:c.1461T>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-36162A>T
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.240-499T>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1461T>A
  hgvsp: ENST00000564274.1:c.1461T>A(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1461T>A
  hgvsp: ENST00000261377.6:c.1461T>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*1056T>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5771
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6269
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5535
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6196
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2647
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2353
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro487Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD

16-20851164-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20851164
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20851164
    reference: chr 16
allele count: 1
allele frequency: 8.254230293025175e-6
allele num: 121150
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.240-489G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1471G>A
  hgvsp: ENSP00000261378.8:p.Glu491Lys
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-36172C>T
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1471G>A
  hgvsp: ENSP00000457616.1:p.Glu491Lys
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*1066G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1471G>A
  hgvsp: ENSP00000261377.6:p.Glu491Lys
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5535
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5771
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4688
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4199
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4378
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2177
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39411
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2352
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu491Lys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

16-20851183-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20851183
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20851183
    reference: chr 16
allele count: 1
allele frequency: 8.278693953241936e-6
allele num: 120792
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-36191A>G
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*1083+2T>C
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1488+2T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005189
  ensembl transcript: ENST00000568334
  gene symbol: AC004381.6
  hgvsc: ENST00000568334.1:n.9T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.240-470T>C
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1488+2T>C
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1488+2T>C
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3368
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5534
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4198
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5771
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8097
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
hgvs: c.1488+2T>C
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

16-20851187-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20851187
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20851187
    reference: chr 16
allele count: 1
allele frequency: 8.286102548805144e-6
allele num: 120684
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-36195A>C
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1488+6T>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*1083+6T>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1488+6T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.240-466T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005189
  ensembl transcript: ENST00000568334
  gene symbol: AC004381.6
  hgvsc: ENST00000568334.1:n.13T>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1488+6T>G
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5534
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3368
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4198
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4888
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4377
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2557
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7798
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2352
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1488+6T>G
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: T
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

16-20851193-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20851193
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20851193
    reference: chr 16
allele count: 6
allele frequency: 4.982478284698809e-5
allele num: 120422
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005189
  ensembl transcript: ENST00000568334
  gene symbol: AC004381.6
  hgvsc: ENST00000568334.1:n.19G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.240-460G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1488+12G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-36201C>G
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1488+12G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1488+12G>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*1083+12G>C
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5534
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4198
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4881
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3368
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39408
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2347
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

16-20851207-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20851207
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20851207
    reference: chr 16
allele count: 1
allele frequency: 8.334166750008334e-6
allele num: 119988
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005189
  ensembl transcript: ENST00000568334
  gene symbol: AC004381.6
  hgvsc: ENST00000568334.1:n.33A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1488+26A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1488+26A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-36215T>A
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1488+26A>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*1083+26A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.240-446A>T
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5753
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5533
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3368
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2345
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1730
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

16-20851209-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20851209
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20851209
    reference: chr 16
allele count: 1
allele frequency: 8.339031671642289e-6
allele num: 119918
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1488+28T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1488+28T>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*1083+28T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-36217A>C
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1488+28T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.240-444T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005189
  ensembl transcript: ENST00000568334
  gene symbol: AC004381.6
  hgvsc: ENST00000568334.1:n.35T>G
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5746
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4428
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5534
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3368
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5116
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2141
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2329
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

16-20851214-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20851214
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20851214
    reference: chr 16
allele count: 1
allele frequency: 8.349196807267141e-6
allele num: 119772
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.240-439T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1488+33T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-36222A>G
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1488+33T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1488+33T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005189
  ensembl transcript: ENST00000568334
  gene symbol: AC004381.6
  hgvsc: ENST00000568334.1:n.40T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*1083+33T>C
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5534
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6194
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5734
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3368
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4766
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1341
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2137
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4433
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

16-20851224-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20851224
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20851224
    reference: chr 16
allele count: 1
allele frequency: 8.381386616601851e-6
allele num: 119312
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1488+43T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005189
  ensembl transcript: ENST00000568334
  gene symbol: AC004381.6
  hgvsc: ENST00000568334.1:n.50T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1488+43T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*1083+43T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1488+43T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.240-429T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-36232A>G
  variant of: http://identifiers.org/hgnc/30541
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5534
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5720
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3368
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3853
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6192
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2328
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3146
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39397
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2114
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1774
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-20851231-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20851231
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20851231
    reference: chr 16
allele count: 2
allele frequency: 1.682821755519655e-5
allele num: 118848
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.240-422C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*1083+50C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1488+50C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1488+50C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-36239G>A
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005189
  ensembl transcript: ENST00000568334
  gene symbol: AC004381.6
  hgvsc: ENST00000568334.1:n.57C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1488+50C>T
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6194
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2531
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5534
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39393
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

16-20851613-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20851613
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20851613
    reference: chr 16
allele count: 1
allele frequency: 8.674983083782986e-6
allele num: 115274
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-36621T>C
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005189
  ensembl transcript: ENST00000568334
  gene symbol: AC004381.6
  hgvsc: ENST00000568334.1:n.439A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.240-40A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1489-40A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1489-40A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1489-40A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*1084-40A>G
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16765
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1653
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4182
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1723
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2031
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5079
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2483
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14691
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

16-20851617-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20851617
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20851617
    reference: chr 16
allele count: 2
allele frequency: 1.73259178404976e-5
allele num: 115434
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1489-36T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.240-36T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005189
  ensembl transcript: ENST00000568334
  gene symbol: AC004381.6
  hgvsc: ENST00000568334.1:n.443T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-36625A>C
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1489-36T>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*1084-36T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1489-36T>G
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13499
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4473
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9119
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2583
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15992
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4246
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2995
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5179
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD

16-20851625-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20851625
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20851625
    reference: chr 16
allele count: 1
allele frequency: 8.624853377492582e-6
allele num: 115944
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-36633T>C
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005189
  ensembl transcript: ENST00000568334
  gene symbol: AC004381.6
  hgvsc: ENST00000568334.1:n.451A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1489-28A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*1084-28A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1489-28A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.240-28A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1489-28A>G
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2522
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4434
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5372
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS

16-20851631-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20851631
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20851631
    reference: chr 16
allele count: 1
allele frequency: 8.592098706029935e-6
allele num: 116386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.240-22T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1489-22T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005189
  ensembl transcript: ENST00000568334
  gene symbol: AC004381.6
  hgvsc: ENST00000568334.1:n.457T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1489-22T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1489-22T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-36639A>G
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*1084-22T>C
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2372
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6906
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11539
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

16-20851639-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20851639
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20851639
    reference: chr 16
allele count: 1
allele frequency: 8.535190590805893e-6
allele num: 117162
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1489-14T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-36647A>G
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005189
  ensembl transcript: ENST00000568334
  gene symbol: AC004381.6
  hgvsc: ENST00000568334.1:n.465T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1489-14T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*1084-14T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.240-14T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1489-14T>C
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3534
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5492
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2056
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11565
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

16-20851658-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20851658
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20851658
    reference: chr 16
allele count: 1
allele frequency: 8.364001338240215e-6
allele num: 119560
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.245G>T
  hgvsp: ENSP00000455867.1:p.Arg82Ser
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*1089G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1494G>T
  hgvsp: ENSP00000457616.1:p.Arg498Ser
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-36666C>A
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1494G>T
  hgvsp: ENSP00000261377.6:p.Arg498Ser
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1494G>T
  hgvsp: ENSP00000261378.8:p.Arg498Ser
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005189
  ensembl transcript: ENST00000568334
  gene symbol: AC004381.6
  hgvsc: ENST00000568334.1:n.484G>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2238
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7130
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4605
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21060
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg498Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/16-20851659-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20851659
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20851659
    reference: chr 16
allele count: 1
allele frequency: 8.358688020328329e-6
allele num: 119636
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.246A>C
  hgvsp: ENSP00000455867.1:p.Ile83Leu
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1495A>C
  hgvsp: ENSP00000261378.8:p.Ile499Leu
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1495A>C
  hgvsp: ENSP00000261377.6:p.Ile499Leu
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1495A>C
  hgvsp: ENSP00000457616.1:p.Ile499Leu
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-36667T>G
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*1090A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005189
  ensembl transcript: ENST00000568334
  gene symbol: AC004381.6
  hgvsc: ENST00000568334.1:n.485A>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10029
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7131
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5569
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3193
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile499Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

16-20851664-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20851664
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20851664
    reference: chr 16
allele count: 1
allele frequency: 8.330972891014212e-6
allele num: 120034
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*1095G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1500G>A
  hgvsp: ENST00000261377.6:c.1500G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-36672C>T
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1500G>A
  hgvsp: ENST00000348433.6:c.1500G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.251G>A
  hgvsp: ENST00000561474.1:c.251G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1500G>A
  hgvsp: ENST00000564274.1:c.1500G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005189
  ensembl transcript: ENST00000568334
  gene symbol: AC004381.6
  hgvsc: ENST00000568334.1:n.490G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14974
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10068
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21545
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3588
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11608
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4615
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys500Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

16-20851680-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20851680
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20851680
    reference: chr 16
allele count: 23
allele frequency: 1.903973509933775e-4
allele num: 120800
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1516A>G
  hgvsp: ENSP00000261378.8:p.Thr506Ala
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1516A>G
  hgvsp: ENSP00000457616.1:p.Thr506Ala
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005189
  ensembl transcript: ENST00000568334
  gene symbol: AC004381.6
  hgvsc: ENST00000568334.1:n.506A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.267A>G
  hgvsp: ENSP00000455867.1:p.Thr90Ala
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*1111A>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1516A>G
  hgvsp: ENSP00000261377.6:p.Thr506Ala
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-36688T>C
  variant of: http://identifiers.org/hgnc/30541
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10100
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 22768
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3195
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2244
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr506Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

16-20851685-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20851685
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20851685
    reference: chr 16
allele count: 1
allele frequency: 8.270477702792114e-6
allele num: 120912
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1521C>T
  hgvsp: ENST00000261377.6:c.1521C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*1116C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005189
  ensembl transcript: ENST00000568334
  gene symbol: AC004381.6
  hgvsc: ENST00000568334.1:n.511C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1521C>T
  hgvsp: ENST00000564274.1:c.1521C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-36693G>A
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1521C>T
  hgvsp: ENST00000348433.6:c.1521C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.272C>T
  hgvsp: ENST00000561474.1:c.272C>T(p.%3D)
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5577
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7196
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22204
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2245
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val507Val
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

16-20851718-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20851718
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20851718
    reference: chr 16
allele count: 2
allele frequency: 1.650600818698006e-5
allele num: 121168
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1554C>T
  hgvsp: ENST00000564274.1:c.1554C>T(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1554C>T
  hgvsp: ENST00000261377.6:c.1554C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-36726G>A
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1554C>T
  hgvsp: ENST00000348433.6:c.1554C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.305C>T
  hgvsp: ENST00000561474.1:c.305C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005189
  ensembl transcript: ENST00000568334
  gene symbol: AC004381.6
  hgvsc: ENST00000568334.1:n.544C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*1149C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10123
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22814
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5576
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu518Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/16-20851753-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20851753
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20851753
    reference: chr 16
allele count: 1
allele frequency: 8.256002113536541e-6
allele num: 121124
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005189
  ensembl transcript: ENST00000568334
  gene symbol: AC004381.6
  hgvsc: ENST00000568334.1:n.579C>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261377
  ensembl transcript: ENST00000261377
  gene symbol: AC004381.6
  hgvsc: ENST00000261377.6:c.1589C>A
  hgvsp: ENSP00000261377.6:p.Pro530Gln
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000455867
  ensembl transcript: ENST00000561474
  gene symbol: AC004381.6
  hgvsc: ENST00000561474.1:c.340C>A
  hgvsp: ENSP00000455867.1:p.Pro114Gln
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000261378
  ensembl transcript: ENST00000348433
  gene symbol: AC004381.6
  hgvsc: ENST00000348433.6:c.1589C>A
  hgvsp: ENSP00000261378.8:p.Pro530Gln
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000455982
  ensembl transcript: ENST00000564349
  gene symbol: ERI2
  hgvsc: ENST00000564349.1:c.-256-36761G>T
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000457616
  ensembl transcript: ENST00000564274
  gene symbol: AC004381.6
  hgvsc: ENST00000564274.1:c.1589C>A
  hgvsp: ENSP00000457616.1:p.Pro530Gln
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005189
  ensembl protein: ENSP00000456227
  ensembl transcript: ENST00000566993
  gene symbol: AC004381.6
  hgvsc: ENST00000566993.1:c.*1184C>A
canonical: true
consequence: missense
filter: PASS
hgvs: p.Pro530Gln
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 12955
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1621
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5859
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1362
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9478
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13570
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6198
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: 6140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.849864959857931e-5
allele num: 54058
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.931e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.98e0

DP
type: SiteQuality
SIO_000300: 1.213155e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.139e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

QD
type: SiteQuality
SIO_000300: 1.835e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 6090
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2141
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 639
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.716781267422412e-5
allele num: 53810
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13482
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9412
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6102
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6186
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.212439e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

QD
type: SiteQuality
SIO_000300: 1.431e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.33e-1

MQ
type: SiteQuality
SIO_000300: 5.855e1

GenotypeQuality
all individuals: 437
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1833
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66394
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16040
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.318034306907742e-4
allele num: 8628
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 9.91e0

DP
type: SiteQuality
SIO_000300: 1.796014e6

MQRankSum
type: SiteQuality
SIO_000300: 8.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.31e-1

FS
type: SiteQuality
SIO_000300: 2.85e0

VQSLOD
type: SiteQuality
SIO_000300: 7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQ
type: SiteQuality
SIO_000300: 5.956e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.008e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.18e-1

GenotypeQuality
all individuals: 40
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3780
bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 316
bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.108687793710086e-4
allele num: 66392
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.932740626207963e-4
allele num: 10348
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: 8632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16068
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.658008658008658e-5
allele num: 11550
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.56e-1

FS
type: SiteQuality
SIO_000300: 1.902e0

QD
type: SiteQuality
SIO_000300: 1.193e1

VQSLOD
type: SiteQuality
SIO_000300: 3.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.799552e6

GenotypeQuality
all individuals: 143
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6629
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 7.5e0
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.864048713806387e-4
allele num: 16094
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
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: 66412
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.65e-1

FS
type: SiteQuality
SIO_000300: 2.417e0

MQRankSum
type: SiteQuality
SIO_000300: 1.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.26e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e0

VQSLOD
type: SiteQuality
SIO_000300: 8.67e-1

QD
type: SiteQuality
SIO_000300: 1.285e1

DP
type: SiteQuality
SIO_000300: 1.800219e6

GenotypeQuality
all individuals: 6631
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 987
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42472
bin: 6.25e1
variant carriers: 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: 0
allele frequency: 0.0e0
allele num: 66414
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.222000995520159e-5
allele num: 16072
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -8.78e-1

QD
type: SiteQuality
SIO_000300: 1.468e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

MQ
type: SiteQuality
SIO_000300: 6.041e1

DP
type: SiteQuality
SIO_000300: 1.80161e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

GenotypeQuality
all individuals: 176
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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variant carriers: 16

GenotypeQuality
all individuals: 1847
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GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16214
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

East Asian
type: Population
allele count: 15
allele frequency: 1.736915238536359e-3
allele num: 8636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504573904670197e-5
allele num: 66464
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
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: -1.04e-1

DP
type: SiteQuality
SIO_000300: 1.813505e6

VQSLOD
type: SiteQuality
SIO_000300: 5.02e0

MQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e0

QD
type: SiteQuality
SIO_000300: 1.245e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 89
bin: 2.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16316
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

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

Latino
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allele count: 3
allele frequency: 2.597402597402597e-4
allele num: 11550
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: 906
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.42e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

MQRankSum
type: SiteQuality
SIO_000300: 7.21e-1

FS
type: SiteQuality
SIO_000300: 5.23e-1

QD
type: SiteQuality
SIO_000300: 1.122e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.447e0

DP
type: SiteQuality
SIO_000300: 1.8178e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501862309263487e-5
allele num: 66584
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
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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: 11550
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.717e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.814e0

MQRankSum
type: SiteQuality
SIO_000300: -1.181e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -7.369e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 1.820855e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.617e0

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

GenotypeQuality
all individuals: 335
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50154659299078e-5
allele num: 66598
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.356e1

MQ
type: SiteQuality
SIO_000300: 5.982e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e0

FS
type: SiteQuality
SIO_000300: 1.115e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

VQSLOD
type: SiteQuality
SIO_000300: 4.09e-1

DP
type: SiteQuality
SIO_000300: 1.82164e6

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1003
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

South Asian
type: Population
allele count: 23
allele frequency: 1.398006321419888e-3
allele num: 16452
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 5.518763796909493e-3
allele num: 906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 122
allele frequency: 1.845688350983359e-2
allele num: 6610
num of homozygotes: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 140
allele frequency: 2.10178651854076e-3
allele num: 66610
num of homozygotes: 1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.09e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.82e0

QD
type: SiteQuality
SIO_000300: 1.299e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e0

MQRankSum
type: SiteQuality
SIO_000300: 2.85e-1

DP
type: SiteQuality
SIO_000300: 1.824414e6

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

GenotypeQuality
all individuals: 153
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 35
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.928268414963363e-4
allele num: 10372
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501276084671971e-5
allele num: 66610
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.82e0

MQRankSum
type: SiteQuality
SIO_000300: 2.85e-1

QD
type: SiteQuality
SIO_000300: 1.299e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

DP
type: SiteQuality
SIO_000300: 1.824414e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.83e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.09e-1

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

GenotypeQuality
all individuals: 7
bin: 7.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 21
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GenotypeQuality
all individuals: 3490
bin: 9.75e1
variant carriers: 35

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1009
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GenotypeQuality
all individuals: 1860
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

South Asian
type: Population
allele count: 35
allele frequency: 2.124817872753764e-3
allele num: 16472
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66630
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 908
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.94e-1

BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.55e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

QD
type: SiteQuality
SIO_000300: 1.113e1

DP
type: SiteQuality
SIO_000300: 1.798319e6

VQSLOD
type: SiteQuality
SIO_000300: 3.86e0

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
all individuals: 61
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 5.779233288383741e-4
allele num: 10382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
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MQRankSum
type: SiteQuality
SIO_000300: -5.25e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-2

BaseQRankSum
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QD
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MQ
type: SiteQuality
SIO_000300: 5.977e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.4e-2

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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variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
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South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.148e0

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.836e1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.48e-1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 3

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

Other
type: Population
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East Asian
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African
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

Latino
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allele count: 3
allele frequency: 2.601456815816858e-4
allele num: 11532
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.28e-1

MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.79e-1

BaseQRankSum
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InbreedingCoeff
type: SiteQuality
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MQRankSum
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DP
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QD
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VQSLOD
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 17
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500330072615976e-5
allele num: 66652
num of homozygotes: 0

African
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allele frequency: 1.926782273603083e-4
allele num: 10380
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South Asian
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allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.514692517418964e-4
allele num: 6602
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.416e1

MQ
type: SiteQuality
SIO_000300: 5.949e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-3

DP
type: SiteQuality
SIO_000300: 1.794529e6

MQRankSum
type: SiteQuality
SIO_000300: 6.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.64e0

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

GenotypeQuality
all individuals: 1857
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6798
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1000
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3418
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.160092807424594e-4
allele num: 8620
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66648
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: 16508
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

FS
type: SiteQuality
SIO_000300: 2.135e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.984e1

MQRankSum
type: SiteQuality
SIO_000300: -3.16e-1

DP
type: SiteQuality
SIO_000300: 1.793626e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.83e-1

QD
type: SiteQuality
SIO_000300: 1.384e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.456e0

GenotypeQuality
all individuals: 1856
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 327
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variant carriers: 0

GenotypeQuality
all individuals: 3415
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
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: 906
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501231009427731e-5
allele num: 66612
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.865e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

QD
type: SiteQuality
SIO_000300: 1.496e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.183e0

VQSLOD
type: SiteQuality
SIO_000300: -9.189000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-2

DP
type: SiteQuality
SIO_000300: 1.792266e6

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1662
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502448991856726e-5
allele num: 66558
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: 6594
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.790718e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.385e0

VQSLOD
type: SiteQuality
SIO_000300: 2.47e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.56e-1

FS
type: SiteQuality
SIO_000300: 3.738e0

QD
type: SiteQuality
SIO_000300: 1.662e1

MQ
type: SiteQuality
SIO_000300: 5.966e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.153e0

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

GenotypeQuality
all individuals: 326
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3405
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 366
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66444
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.132e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.347e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.786773e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.97e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.158e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.946e0

GenotypeQuality
all individuals: 1792
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
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: 6574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66052
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.068697657482704e-5
allele num: 16478
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.07e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.58e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

MQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.772511e6

QD
type: SiteQuality
SIO_000300: 1.201e1

GenotypeQuality
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41986
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1471
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3370
bin: 9.75e1
variant carriers: 4

African
type: Population
allele count: 4
allele frequency: 3.889537145079736e-4
allele num: 10284
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64616
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16346
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11246
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.948e1

MQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

DP
type: SiteQuality
SIO_000300: 1.720014e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.385e0

QD
type: SiteQuality
SIO_000300: 1.19e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 7.219e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.58e-1

GenotypeQuality
all individuals: 1507
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 333
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.565386180770796e-5
allele num: 63882
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8240
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16260
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11116
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e-1

QD
type: SiteQuality
SIO_000300: 1.495e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.519e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-2

FS
type: SiteQuality
SIO_000300: 4.744e0

MQRankSum
type: SiteQuality
SIO_000300: -3.67e-1

MQ
type: SiteQuality
SIO_000300: 5.85e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e0

DP
type: SiteQuality
SIO_000300: 1.687917e6

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1019
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1108
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3350
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 608
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variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5349
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.593422352528761e-5
allele num: 62758
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10164
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10926
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16096
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.639676e6

MQ
type: SiteQuality
SIO_000300: 5.753e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.165e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

VQSLOD
type: SiteQuality
SIO_000300: -1.603e0

FS
type: SiteQuality
SIO_000300: 9.045999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.23e-1

QD
type: SiteQuality
SIO_000300: 1.099e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-2

GenotypeQuality
all individuals: 109
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7235
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 830
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 319
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variant carriers: 0

GenotypeQuality
all individuals: 3343
bin: 9.75e1
variant carriers: 4

Latino
type: Population
allele count: 2
allele frequency: 1.857010213556174e-4
allele num: 10770
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6392
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10116
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.224766204450177e-5
allele num: 62020
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7994
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15982
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

QD
type: SiteQuality
SIO_000300: 1.431e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.426e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.66e0

FS
type: SiteQuality
SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 1.598399e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 258
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1567
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7483
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
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variant carriers: 0

GenotypeQuality
all individuals: 242
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variant carriers: 0

GenotypeQuality
all individuals: 402
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variant carriers: 0

GenotypeQuality
all individuals: 1282
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7986
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15972
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.310986964618249e-5
allele num: 10740
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61938
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.208e0

QD
type: SiteQuality
SIO_000300: 1.528e1

MQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.68e-1

MQ
type: SiteQuality
SIO_000300: 5.863e1

DP
type: SiteQuality
SIO_000300: 1.591093e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.73e-1

GenotypeQuality
all individuals: 2976
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 930
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variant carriers: 0

GenotypeQuality
all individuals: 11727
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27888
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variant carriers: 0

GenotypeQuality
all individuals: 974
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 733
bin: 5.25e1
variant carriers: 0

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

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9932
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.662952738883161e-5
allele num: 60134
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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DP
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MQRankSum
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ReadPosRankSum
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FS
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QD
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InbreedingCoeff
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SIO_000300: -1.6e-3

BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.34e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

Latino
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allele frequency: 0.0e0
allele num: 10242
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.678302900107411e-5
allele num: 59584
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9878
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6204
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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MQ
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FS
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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QD
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 53158
num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5836
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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East Asian
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allele frequency: 2.998500749625187e-4
allele num: 6670
num of homozygotes: 1

MQ
type: SiteQuality
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ClippingRankSum
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DP
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FS
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VQSLOD
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BaseQRankSum
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QD
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
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MQRankSum
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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
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.508159140952553e-5
allele num: 66306
num of homozygotes: 0

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

ReadPosRankSum
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DP
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
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QD
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
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MQRankSum
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11550
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East Asian
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allele count: 0
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Other
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allele count: 2
allele frequency: 2.232142857142857e-3
allele num: 896
num of homozygotes: 0

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

South Asian
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allele count: 64
allele frequency: 4.086845466155811e-3
allele num: 15660
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.357466063348416e-4
allele num: 66300
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-1

QD
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.91e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66398
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.730103806228374e-4
allele num: 11560
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 900
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South Asian
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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.983e1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.300646e6

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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Other
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allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.505479947007106e-5
allele num: 66424
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11558
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South Asian
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allele count: 3
allele frequency: 1.886080724254998e-4
allele num: 15906
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East Asian
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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DP
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InbreedingCoeff
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ReadPosRankSum
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66436
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Latino
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allele num: 11562
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East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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DP
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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FS
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MQ
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QD
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VQSLOD
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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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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
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South Asian
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Other
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African
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East Asian
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allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66454
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VQSLOD
type: SiteQuality
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MQ
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FS
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MQRankSum
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DP
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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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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Other
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Latino
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African
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European (Finnish)
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European (Non-Finnish)
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South Asian
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East Asian
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ReadPosRankSum
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FS
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MQRankSum
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VQSLOD
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InbreedingCoeff
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DP
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BaseQRankSum
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MQ
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ClippingRankSum
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QD
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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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European (Finnish)
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African
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Latino
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South Asian
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allele frequency: 9.266123054114158e-4
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East Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66538
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Other
type: Population
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InbreedingCoeff
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MQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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DP
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MQ
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FS
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ClippingRankSum
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BaseQRankSum
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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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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16246
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66574
num of homozygotes: 0

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.316147e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

QD
type: SiteQuality
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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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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16254
num of homozygotes: 0

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

East Asian
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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: 902
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.316166e6

MQ
type: SiteQuality
SIO_000300: 5.96e1

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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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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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501681883709755e-5
allele num: 66592
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

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 9.320000000000001e-1

VQSLOD
type: SiteQuality
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ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 5.955e1

FS
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InbreedingCoeff
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SIO_000300: 3.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 9.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

DP
type: SiteQuality
SIO_000300: 3.318213e6

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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variant carriers: 0

Other
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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: 8654
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16366
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.001741009785676e-5
allele num: 66628
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.01e-1

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.18e-1

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

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.206e0

MQRankSum
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SIO_000300: 1.68e0

FS
type: SiteQuality
SIO_000300: 1.12e0

GenotypeQuality
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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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 39416
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16450
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.307e0

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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bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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BaseQRankSum
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QD
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500060002400096e-5
allele num: 66664
num of homozygotes: 0

South Asian
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allele frequency: 6.076072426783327e-5
allele num: 16458
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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DP
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MQ
type: SiteQuality
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VQSLOD
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MQRankSum
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BaseQRankSum
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QD
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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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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
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num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.499700059988002e-5
allele num: 66680
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
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ClippingRankSum
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VQSLOD
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MQRankSum
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MQ
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 1.499700059988002e-5
allele num: 66680
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 906
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African
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South Asian
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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DP
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ReadPosRankSum
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ClippingRankSum
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MQ
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FS
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QD
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BaseQRankSum
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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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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
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num of homozygotes: 0

South Asian
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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Other
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East Asian
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African
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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FS
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ClippingRankSum
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DP
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MQRankSum
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QD
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MQ
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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

European (Non-Finnish)
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num of homozygotes: 0

East Asian
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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African
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South Asian
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Other
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BaseQRankSum
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MQRankSum
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MQ
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FS
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QD
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ClippingRankSum
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VQSLOD
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DP
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8864
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2354
bin: 8.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499835018148004e-5
allele num: 66674
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.67e0

MQRankSum
type: SiteQuality
SIO_000300: -4.05e-1

FS
type: SiteQuality
SIO_000300: 1.2807e1

DP
type: SiteQuality
SIO_000300: 3.321637e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.247e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.75e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
all individuals: 2354
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2184
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2646
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2619
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39414
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 1342
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.42e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.88e0

QD
type: SiteQuality
SIO_000300: 1.616e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.036e0

FS
type: SiteQuality
SIO_000300: 1.1885e1

MQ
type: SiteQuality
SIO_000300: 5.979e1

DP
type: SiteQuality
SIO_000300: 3.321555e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.07e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 5

GenotypeQuality
all individuals: 2618
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.216249087813184e-4
allele num: 16444
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999940001199976e-5
allele num: 66668
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

FS
type: SiteQuality
SIO_000300: 6.830000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.28e0

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.53e-1

DP
type: SiteQuality
SIO_000300: 3.321317e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.343e1

GenotypeQuality
all individuals: 8735
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2616
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1341
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2646
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66632
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: 11558
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.105006105006105e-5
allele num: 16380
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.319309e6

MQ
type: SiteQuality
SIO_000300: 5.99e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.69e-1

QD
type: SiteQuality
SIO_000300: 1.341e1

MQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.772e0

FS
type: SiteQuality
SIO_000300: 1.4256e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -9.077e0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2160
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2566
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.25e1
variant carriers: 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: 904
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16126
num of homozygotes: 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: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

DP
type: SiteQuality
SIO_000300: 3.311401e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.84e-1

QD
type: SiteQuality
SIO_000300: 1.908e1

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQRankSum
type: SiteQuality
SIO_000300: 3.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.37e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.012e1

GenotypeQuality
all individuals: 78
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2647
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39409
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2157
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1341
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.227425582264292e-5
allele num: 16058
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: 904
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.274e0

DP
type: SiteQuality
SIO_000300: 3.30761e6

QD
type: SiteQuality
SIO_000300: 1.612e1

VQSLOD
type: SiteQuality
SIO_000300: 5.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.052e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

GenotypeQuality
all individuals: 2476
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2153
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variant carriers: 0

GenotypeQuality
all individuals: 48
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variant carriers: 0

GenotypeQuality
all individuals: 47
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variant carriers: 0

GenotypeQuality
all individuals: 2645
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 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: 15884
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.662508662508663e-5
allele num: 11544
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66434
num of homozygotes: 0

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

African
type: Population
allele count: 5
allele frequency: 4.808617041738796e-4
allele num: 10398
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.526e1

DP
type: SiteQuality
SIO_000300: 3.298459e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.13e0

FS
type: SiteQuality
SIO_000300: 1.623e0

MQRankSum
type: SiteQuality
SIO_000300: -2.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.99e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

GenotypeQuality
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bin: 9.25e1
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
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1342
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2142
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507386192342478e-5
allele num: 66340
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: 15608
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.85e-1

FS
type: SiteQuality
SIO_000300: 5.619e0

MQ
type: SiteQuality
SIO_000300: 5.923e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.6e0

DP
type: SiteQuality
SIO_000300: 3.276032e6

MQRankSum
type: SiteQuality
SIO_000300: 1.6e0

QD
type: SiteQuality
SIO_000300: 5.99e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 102
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variant carriers: 0

GenotypeQuality
all individuals: 39403
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66324
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.63020030816641e-5
allele num: 10384
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: 894
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15564
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.629e0

QD
type: SiteQuality
SIO_000300: 1.53e0

DP
type: SiteQuality
SIO_000300: 3.271785e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.14e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.92e0

FS
type: SiteQuality
SIO_000300: 9.430999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

GenotypeQuality
all individuals: 705
bin: 2.75e1
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
all individuals: 2259
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66282
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.160362032954282e-4
allele num: 8618
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15468
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

QD
type: SiteQuality
SIO_000300: 1.9e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-2

FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.262533e6

VQSLOD
type: SiteQuality
SIO_000300: -3.93e-2

MQ
type: SiteQuality
SIO_000300: 5.966e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.94e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1346
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variant carriers: 0

GenotypeQuality
all individuals: 491
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variant carriers: 0

GenotypeQuality
all individuals: 2040
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
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variant carriers: 0

GenotypeQuality
all individuals: 790
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variant carriers: 0

GenotypeQuality
all individuals: 2642
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1336
bin: 8.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66180
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 8.69414014953921e-5
allele num: 11502
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.78e0

QD
type: SiteQuality
SIO_000300: 1.66e1

DP
type: SiteQuality
SIO_000300: 3.246437e6

VQSLOD
type: SiteQuality
SIO_000300: 3.88e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.714e0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66066
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14908
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.340276152586005e-4
allele num: 8546
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.05e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

DP
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SIO_000300: 3.239552e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.375e0

QD
type: SiteQuality
SIO_000300: 1.329e1

MQRankSum
type: SiteQuality
SIO_000300: 5.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-2

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
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allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.799718409010911e-5
allele num: 11364
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64864
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
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

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.69e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.94e-1

QD
type: SiteQuality
SIO_000300: 1.966e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

MQ
type: SiteQuality
SIO_000300: 5.95e1

FS
type: SiteQuality
SIO_000300: 3.262e0

VQSLOD
type: SiteQuality
SIO_000300: -1.493e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.01e-1

DP
type: SiteQuality
SIO_000300: 1.705577e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.463e0

GenotypeQuality
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bin: 4.25e1
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
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bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11372
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.080714725816389e-5
allele num: 64920
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12886
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.64e0

VQSLOD
type: SiteQuality
SIO_000300: -6.541e-1

FS
type: SiteQuality
SIO_000300: 8.484999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.62e0

DP
type: SiteQuality
SIO_000300: 1.718946e6

QD
type: SiteQuality
SIO_000300: 1.367e1

GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.596475235490732e-5
allele num: 13164
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65088
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.166e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.58e0

QD
type: SiteQuality
SIO_000300: 1.405e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

DP
type: SiteQuality
SIO_000300: 1.746213e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

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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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13402
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.162520344106022e-4
allele num: 8602
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65242
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.316e0

FS
type: SiteQuality
SIO_000300: 2.347e0

QD
type: SiteQuality
SIO_000300: 1.25e1

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.26e-1

DP
type: SiteQuality
SIO_000300: 1.760055e6

VQSLOD
type: SiteQuality
SIO_000300: 3.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.29e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 19053
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variant carriers: 0

GenotypeQuality
all individuals: 2217
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527323823196994e-5
allele num: 65474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13856
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: 860
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.414e1

DP
type: SiteQuality
SIO_000300: 1.775088e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.93e-1

MQ
type: SiteQuality
SIO_000300: 5.93e1

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.98e-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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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66184
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.504488096786782e-5
allele num: 15374
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.809291e6

QD
type: SiteQuality
SIO_000300: 1.387e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.19e-2

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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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510209012927389e-5
allele num: 66216
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
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East Asian
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.810291e6

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
SIO_000300: 4.022e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 5.71e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-2

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66338
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
type: Population
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allele num: 902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
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Latino
type: Population
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African
type: Population
allele count: 0
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South Asian
type: Population
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allele frequency: 6.379992344009187e-5
allele num: 15674
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.013e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.81545e6

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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variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.236246754852269e-4
allele num: 16178
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.735809755250825e-4
allele num: 11522
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 2.854996243425995e-4
allele num: 66550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6598
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.16e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.97e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

QD
type: SiteQuality
SIO_000300: 1.49e1

VQSLOD
type: SiteQuality
SIO_000300: 6.21e0

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-1

DP
type: SiteQuality
SIO_000300: 1.826618e6

GenotypeQuality
all individuals: 232
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4618
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3614
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11633
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3195
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.676036786395974e-5
allele num: 11526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66574
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16252
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.167e0

FS
type: SiteQuality
SIO_000300: 1.008e0

DP
type: SiteQuality
SIO_000300: 1.827846e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.743e0

VQSLOD
type: SiteQuality
SIO_000300: -1.604e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

QD
type: SiteQuality
SIO_000300: 1.408e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.73e-1

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

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

GenotypeQuality
all individuals: 3621
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22412
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11633
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3196
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7197
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2242
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4624
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000210014701029e-5
allele num: 66662
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16392
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.187e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.521e0

VQSLOD
type: SiteQuality
SIO_000300: 9.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-1

DP
type: SiteQuality
SIO_000300: 1.8311e6

QD
type: SiteQuality
SIO_000300: 1.485e1

FS
type: SiteQuality
SIO_000300: 3.209e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e0