18-5292190-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5292190
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5292190
    reference: chr 18
allele count: 3
allele frequency: 2.721977244270238e-5
allele num: 110214
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000383009
  ensembl transcript: ENST00000400143
  gene symbol: ZBTB14
  hgvsc: ENST00000400143.3:c.17G>A
  hgvsp: ENSP00000383009.3:p.Ser6Asn
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000349503
  ensembl transcript: ENST00000357006
  gene symbol: ZBTB14
  hgvsc: ENST00000357006.4:c.17G>A
  hgvsp: ENSP00000349503.4:p.Ser6Asn
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463555
  ensembl transcript: ENST00000582388
  gene symbol: ZBTB14
  hgvsc: ENST00000582388.1:c.17G>A
  hgvsp: ENSP00000463555.1:p.Ser6Asn
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463414
  ensembl transcript: ENST00000582135
  gene symbol: ZBTB14
  hgvsc: ENST00000582135.1:c.17G>A
  hgvsp: ENSP00000463414.1:p.Ser6Asn
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198081
  ensembl transcript: ENST00000585253
  gene symbol: ZBTB14
  hgvsc: ENST00000585253.1:n.418G>A
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000462112
  ensembl transcript: ENST00000578327
  gene symbol: ZBTB14
  hgvsc: ENST00000578327.1:c.17G>A
  hgvsp: ENSP00000462112.1:p.Ser6Asn
  variant of: http://identifiers.org/hgnc/12860
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13929
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3456
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7064
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8124
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9437
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3644
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4071
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser6Asn
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

18-5292191-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5292191
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5292191
    reference: chr 18
allele count: 1
allele frequency: 9.127418765972983e-6
allele num: 109560
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000383009
  ensembl transcript: ENST00000400143
  gene symbol: ZBTB14
  hgvsc: ENST00000400143.3:c.16A>G
  hgvsp: ENSP00000383009.3:p.Ser6Gly
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000349503
  ensembl transcript: ENST00000357006
  gene symbol: ZBTB14
  hgvsc: ENST00000357006.4:c.16A>G
  hgvsp: ENSP00000349503.4:p.Ser6Gly
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463414
  ensembl transcript: ENST00000582135
  gene symbol: ZBTB14
  hgvsc: ENST00000582135.1:c.16A>G
  hgvsp: ENSP00000463414.1:p.Ser6Gly
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463555
  ensembl transcript: ENST00000582388
  gene symbol: ZBTB14
  hgvsc: ENST00000582388.1:c.16A>G
  hgvsp: ENSP00000463555.1:p.Ser6Gly
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198081
  ensembl transcript: ENST00000585253
  gene symbol: ZBTB14
  hgvsc: ENST00000585253.1:n.417A>G
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000462112
  ensembl transcript: ENST00000578327
  gene symbol: ZBTB14
  hgvsc: ENST00000578327.1:c.16A>G
  hgvsp: ENSP00000462112.1:p.Ser6Gly
  variant of: http://identifiers.org/hgnc/12860
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7925
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9381
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14377
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4725
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3851
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26070
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3895
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser6Gly
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff

18-5292200-ACTC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5292200
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5292197
    reference: chr 18
allele count: 1
allele frequency: 1.268391679350583e-5
allele num: 78840
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000383009
  ensembl transcript: ENST00000400143
  gene symbol: ZBTB14
  hgvsc: ENST00000400143.3:c.4_6delGAG
  hgvsp: ENSP00000383009.3:p.Glu2del
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463414
  ensembl transcript: ENST00000582135
  gene symbol: ZBTB14
  hgvsc: ENST00000582135.1:c.4_6delGAG
  hgvsp: ENSP00000463414.1:p.Glu2del
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000349503
  ensembl transcript: ENST00000357006
  gene symbol: ZBTB14
  hgvsc: ENST00000357006.4:c.4_6delGAG
  hgvsp: ENSP00000349503.4:p.Glu2del
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000462112
  ensembl transcript: ENST00000578327
  gene symbol: ZBTB14
  hgvsc: ENST00000578327.1:c.4_6delGAG
  hgvsp: ENSP00000462112.1:p.Glu2del
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463555
  ensembl transcript: ENST00000582388
  gene symbol: ZBTB14
  hgvsc: ENST00000582388.1:c.4_6delGAG
  hgvsp: ENSP00000463555.1:p.Glu2del
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198081
  ensembl transcript: ENST00000585253
  gene symbol: ZBTB14
  hgvsc: ENST00000585253.1:n.405_407delGAG
  variant of: http://identifiers.org/hgnc/12860
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 6716
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11432
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11451
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13585
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4002
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2391
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2209
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14810
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26346
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu2del
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: ACTC
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD

18-5292201-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5292201
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5292201
    reference: chr 18
allele count: 0
allele frequency: 0.0e0
allele num: 76448
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000462112
  ensembl transcript: ENST00000578327
  gene symbol: ZBTB14
  hgvsc: ENST00000578327.1:c.6G>A
  hgvsp: ENST00000578327.1:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463555
  ensembl transcript: ENST00000582388
  gene symbol: ZBTB14
  hgvsc: ENST00000582388.1:c.6G>A
  hgvsp: ENST00000582388.1:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463414
  ensembl transcript: ENST00000582135
  gene symbol: ZBTB14
  hgvsc: ENST00000582135.1:c.6G>A
  hgvsp: ENST00000582135.1:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000383009
  ensembl transcript: ENST00000400143
  gene symbol: ZBTB14
  hgvsc: ENST00000400143.3:c.6G>A
  hgvsp: ENST00000400143.3:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198081
  ensembl transcript: ENST00000585253
  gene symbol: ZBTB14
  hgvsc: ENST00000585253.1:n.407G>A
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000349503
  ensembl transcript: ENST00000357006
  gene symbol: ZBTB14
  hgvsc: ENST00000357006.4:c.6G>A
  hgvsp: ENST00000357006.4:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12860
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 6658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11323
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6321
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13622
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11568
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25243
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15490
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2417
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 3.75e1
  variant carriers: 0
hgvs: c.6G>A
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

18-5292204-C-CATGAACAACTCAGGCTATTATCTTAATGCCTTGAACGCCAAAATCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5292204
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5292250
    reference: chr 18
allele count: 1
allele frequency: 1.89753320683112e-5
allele num: 52700
alternate allele: CATGAACAACTCAGGCTATTATCTTAATGCCTTGAACGCCAAAATCT
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463555
  ensembl transcript: ENST00000582388
  gene symbol: ZBTB14
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463414
  ensembl transcript: ENST00000582135
  gene symbol: ZBTB14
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000349503
  ensembl transcript: ENST00000357006
  gene symbol: ZBTB14
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000383009
  ensembl transcript: ENST00000400143
  gene symbol: ZBTB14
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000198081
  ensembl transcript: ENST00000585253
  gene symbol: ZBTB14
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000462112
  ensembl transcript: ENST00000578327
  gene symbol: ZBTB14
  variant of: http://identifiers.org/hgnc/12860
canonical: true
consequence: splice acceptor
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13407
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5972
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6349
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1986
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3530
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5231
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1908
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18165
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3216
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14775
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

18-5292205-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5292205
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5292206
    reference: chr 18
allele count: 1
allele frequency: 2.213858755811379e-5
allele num: 45170
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000462112
  ensembl transcript: ENST00000578327
  gene symbol: ZBTB14
  hgvsc: ENST00000578327.1:c.4-3dupT
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463555
  ensembl transcript: ENST00000582388
  gene symbol: ZBTB14
  hgvsc: ENST00000582388.1:c.4-3dupT
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000349503
  ensembl transcript: ENST00000357006
  gene symbol: ZBTB14
  hgvsc: ENST00000357006.4:c.4-3dupT
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463414
  ensembl transcript: ENST00000582135
  gene symbol: ZBTB14
  hgvsc: ENST00000582135.1:c.4-3dupT
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000383009
  ensembl transcript: ENST00000400143
  gene symbol: ZBTB14
  hgvsc: ENST00000400143.3:c.4-3dupT
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl transcript: ENST00000585253
  gene symbol: ZBTB14
  hgvsc: ENST00000585253.1:n.405-3dupT
  variant of: http://identifiers.org/hgnc/12860
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12208
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6371
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10149
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3367
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3424
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16901
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2967
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1972
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11412
  bin: 2.25e1
  variant carriers: 0
hgvs: c.4-3dupT
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/18-5292207-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5292207
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5292208
    reference: chr 18
allele count: 653
allele frequency: 1.433337723341674e-2
allele num: 45558
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000383009
  ensembl transcript: ENST00000400143
  gene symbol: ZBTB14
  hgvsc: ENST00000400143.3:c.4-5dupT
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463414
  ensembl transcript: ENST00000582135
  gene symbol: ZBTB14
  hgvsc: ENST00000582135.1:c.4-5dupT
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463555
  ensembl transcript: ENST00000582388
  gene symbol: ZBTB14
  hgvsc: ENST00000582388.1:c.4-5dupT
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000462112
  ensembl transcript: ENST00000578327
  gene symbol: ZBTB14
  hgvsc: ENST00000578327.1:c.4-5dupT
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl transcript: ENST00000585253
  gene symbol: ZBTB14
  hgvsc: ENST00000585253.1:n.405-5dupT
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000349503
  ensembl transcript: ENST00000357006
  gene symbol: ZBTB14
  hgvsc: ENST00000357006.4:c.4-5dupT
  variant of: http://identifiers.org/hgnc/12860
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14936
  bin: 7.5e0
  variant carriers: 223
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 2.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 18737
  bin: 1.25e1
  variant carriers: 405
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 2.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 5198
  bin: 2.25e1
  variant carriers: 124
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 3.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 11906
  bin: 1.75e1
  variant carriers: 253
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 7.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 8.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 18256
  bin: 2.5e0
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 3.75e1
  variant carriers: 92
genotype quality: GenotypeQuality
  all individuals: 3911
  bin: 7.5e0
  variant carriers: 66
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 8.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 3001
  bin: 2.25e1
  variant carriers: 61
genotype quality: GenotypeQuality
  all individuals: 8683
  bin: 9.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 2.75e1
  variant carriers: 75
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 6.25e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 2471
  bin: 1.75e1
  variant carriers: 70
hgvs: c.4-5dupT
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/18-5292207-C-CAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5292207
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5292209
    reference: chr 18
allele count: 8
allele frequency: 1.756003336406339e-4
allele num: 45558
alternate allele: CAA
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000462112
  ensembl transcript: ENST00000578327
  gene symbol: ZBTB14
  hgvsc: ENST00000578327.1:c.4-6_4-5dupTT
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463414
  ensembl transcript: ENST00000582135
  gene symbol: ZBTB14
  hgvsc: ENST00000582135.1:c.4-6_4-5dupTT
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463555
  ensembl transcript: ENST00000582388
  gene symbol: ZBTB14
  hgvsc: ENST00000582388.1:c.4-6_4-5dupTT
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl transcript: ENST00000585253
  gene symbol: ZBTB14
  hgvsc: ENST00000585253.1:n.405-6_405-5dupTT
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000349503
  ensembl transcript: ENST00000357006
  gene symbol: ZBTB14
  hgvsc: ENST00000357006.4:c.4-6_4-5dupTT
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000383009
  ensembl transcript: ENST00000400143
  gene symbol: ZBTB14
  hgvsc: ENST00000400143.3:c.4-6_4-5dupTT
  variant of: http://identifiers.org/hgnc/12860
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18737
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 14936
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11906
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3911
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3001
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2011
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3028
  bin: 1.25e1
  variant carriers: 3
hgvs: c.4-6_4-5dupTT
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/18-5292207-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5292207
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5292206
    reference: chr 18
allele count: 22515
allele frequency: 4.942051889898591e-1
allele num: 45558
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000462112
  ensembl transcript: ENST00000578327
  gene symbol: ZBTB14
  hgvsc: ENST00000578327.1:c.4-5delT
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463555
  ensembl transcript: ENST00000582388
  gene symbol: ZBTB14
  hgvsc: ENST00000582388.1:c.4-5delT
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl transcript: ENST00000585253
  gene symbol: ZBTB14
  hgvsc: ENST00000585253.1:n.405-5delT
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000349503
  ensembl transcript: ENST00000357006
  gene symbol: ZBTB14
  hgvsc: ENST00000357006.4:c.4-5delT
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000383009
  ensembl transcript: ENST00000400143
  gene symbol: ZBTB14
  hgvsc: ENST00000400143.3:c.4-5delT
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463414
  ensembl transcript: ENST00000582135
  gene symbol: ZBTB14
  hgvsc: ENST00000582135.1:c.4-5delT
  variant of: http://identifiers.org/hgnc/12860
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.25e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 3.25e1
  variant carriers: 413
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 2.75e1
  variant carriers: 1020
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 2.5e0
  variant carriers: 981
genotype depth: GenotypeDepth
  all individuals: 5198
  bin: 2.25e1
  variant carriers: 2603
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 18737
  bin: 1.25e1
  variant carriers: 11333
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.25e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 3.75e1
  variant carriers: 262
genotype depth: GenotypeDepth
  all individuals: 11906
  bin: 1.75e1
  variant carriers: 6680
genotype depth: GenotypeDepth
  all individuals: 14936
  bin: 7.5e0
  variant carriers: 9154
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 3.75e1
  variant carriers: 1409
genotype quality: GenotypeQuality
  all individuals: 1729
  bin: 5.75e1
  variant carriers: 1611
genotype quality: GenotypeQuality
  all individuals: 2471
  bin: 1.75e1
  variant carriers: 1605
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 7.75e1
  variant carriers: 1260
genotype quality: GenotypeQuality
  all individuals: 3001
  bin: 2.25e1
  variant carriers: 1318
genotype quality: GenotypeQuality
  all individuals: 3911
  bin: 7.5e0
  variant carriers: 1564
genotype quality: GenotypeQuality
  all individuals: 3028
  bin: 1.25e1
  variant carriers: 2061
genotype quality: GenotypeQuality
  all individuals: 2011
  bin: 3.25e1
  variant carriers: 1777
genotype quality: GenotypeQuality
  all individuals: 18256
  bin: 2.5e0
  variant carriers: 1331
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 2.75e1
  variant carriers: 1488
genotype quality: GenotypeQuality
  all individuals: 8683
  bin: 9.75e1
  variant carriers: 8405
hgvs: c.4-5delT
num of homozygotes: 2597
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: CA
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/18-5292207-CAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5292207
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5292205
    reference: chr 18
allele count: 1136
allele frequency: 2.493524737697001e-2
allele num: 45558
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000383009
  ensembl transcript: ENST00000400143
  gene symbol: ZBTB14
  hgvsc: ENST00000400143.3:c.4-6_4-5delTT
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000462112
  ensembl transcript: ENST00000578327
  gene symbol: ZBTB14
  hgvsc: ENST00000578327.1:c.4-6_4-5delTT
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463414
  ensembl transcript: ENST00000582135
  gene symbol: ZBTB14
  hgvsc: ENST00000582135.1:c.4-6_4-5delTT
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463555
  ensembl transcript: ENST00000582388
  gene symbol: ZBTB14
  hgvsc: ENST00000582388.1:c.4-6_4-5delTT
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000349503
  ensembl transcript: ENST00000357006
  gene symbol: ZBTB14
  hgvsc: ENST00000357006.4:c.4-6_4-5delTT
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl transcript: ENST00000585253
  gene symbol: ZBTB14
  hgvsc: ENST00000585253.1:n.405-6_405-5delTT
  variant of: http://identifiers.org/hgnc/12860
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 2.5e0
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 5198
  bin: 2.25e1
  variant carriers: 204
genotype depth: GenotypeDepth
  all individuals: 11906
  bin: 1.75e1
  variant carriers: 439
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 3.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 14936
  bin: 7.5e0
  variant carriers: 390
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18737
  bin: 1.25e1
  variant carriers: 561
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 2.75e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3001
  bin: 2.25e1
  variant carriers: 69
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 5.25e1
  variant carriers: 78
genotype quality: GenotypeQuality
  all individuals: 3911
  bin: 7.5e0
  variant carriers: 85
genotype quality: GenotypeQuality
  all individuals: 2471
  bin: 1.75e1
  variant carriers: 74
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 4.25e1
  variant carriers: 90
genotype quality: GenotypeQuality
  all individuals: 8683
  bin: 9.75e1
  variant carriers: 403
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 3.75e1
  variant carriers: 75
genotype quality: GenotypeQuality
  all individuals: 3028
  bin: 1.25e1
  variant carriers: 92
genotype quality: GenotypeQuality
  all individuals: 1729
  bin: 5.75e1
  variant carriers: 84
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 6.25e1
  variant carriers: 76
genotype quality: GenotypeQuality
  all individuals: 2011
  bin: 3.25e1
  variant carriers: 94
hgvs: c.4-6_4-5delTT
num of homozygotes: 8
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: CAA
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS

http://identifiers.org/exac.variant/18-5292207-CAAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5292207
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5292204
    reference: chr 18
allele count: 6
allele frequency: 1.317002502304754e-4
allele num: 45558
alternate allele: C
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11906
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5198
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18737
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14936
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3028
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2471
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18256
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3001
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3911
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1729
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2011
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8683
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3790
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 398
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 2
  allele frequency: 4.670714619336758e-4
  allele num: 4282
  num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 2.43427458617332e-4
  allele num: 4108
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: CAAA
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/18-5292207-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5292207
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5292207
    reference: chr 18
allele count: 19
allele frequency: 4.170507923965055e-4
allele num: 45558
alternate allele: A
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14936
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5198
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 11906
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18737
  bin: 1.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3028
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3001
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8683
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2471
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3911
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1729
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2011
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18256
  bin: 2.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 2.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 4
  allele frequency: 9.341429238673517e-4
  allele num: 4282
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 8
  allele frequency: 3.017046311660884e-4
  allele num: 26516
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 398
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 4
  allele frequency: 2.41254523522316e-3
  allele num: 1658
  num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/18-5292208-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5292208
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5292208
    reference: chr 18
allele count: 2
allele frequency: 2.923121894182987e-4
allele num: 6842
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000383009
  ensembl transcript: ENST00000400143
  gene symbol: ZBTB14
  hgvsc: ENST00000400143.3:c.4-5T>G
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl transcript: ENST00000585253
  gene symbol: ZBTB14
  hgvsc: ENST00000585253.1:n.405-5T>G
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000462112
  ensembl transcript: ENST00000578327
  gene symbol: ZBTB14
  hgvsc: ENST00000578327.1:c.4-5T>G
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463555
  ensembl transcript: ENST00000582388
  gene symbol: ZBTB14
  hgvsc: ENST00000582388.1:c.4-5T>G
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463414
  ensembl transcript: ENST00000582135
  gene symbol: ZBTB14
  hgvsc: ENST00000582135.1:c.4-5T>G
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000349503
  ensembl transcript: ENST00000357006
  gene symbol: ZBTB14
  hgvsc: ENST00000357006.4:c.4-5T>G
  variant of: http://identifiers.org/hgnc/12860
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7086
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4659
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5745
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 2.5e0
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 255
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3302
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2842
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14736
  bin: 2.5e0
  variant carriers: 0
hgvs: c.4-5T>G
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/18-5292209-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5292209
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5292209
    reference: chr 18
allele count: 2
allele frequency: 1.647989452867502e-4
allele num: 12136
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl transcript: ENST00000585253
  gene symbol: ZBTB14
  hgvsc: ENST00000585253.1:n.405-6T>G
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000349503
  ensembl transcript: ENST00000357006
  gene symbol: ZBTB14
  hgvsc: ENST00000357006.4:c.4-6T>G
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000383009
  ensembl transcript: ENST00000400143
  gene symbol: ZBTB14
  hgvsc: ENST00000400143.3:c.4-6T>G
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463414
  ensembl transcript: ENST00000582135
  gene symbol: ZBTB14
  hgvsc: ENST00000582135.1:c.4-6T>G
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000462112
  ensembl transcript: ENST00000578327
  gene symbol: ZBTB14
  hgvsc: ENST00000578327.1:c.4-6T>G
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463555
  ensembl transcript: ENST00000582388
  gene symbol: ZBTB14
  hgvsc: ENST00000582388.1:c.4-6T>G
  variant of: http://identifiers.org/hgnc/12860
canonical: true
consequence: splice region
filter: InbreedingCoeff_Filter
genotype depth: GenotypeDepth
  all individuals: 9873
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7627
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12043
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4028
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32163
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3432
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
hgvs: c.4-6T>G
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

18-5292228-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5292228
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5292228
    reference: chr 18
allele count: 0
allele frequency: 0.0e0
allele num: 38436
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000462112
  ensembl transcript: ENST00000578327
  gene symbol: ZBTB14
  hgvsc: ENST00000578327.1:c.4-25T>A
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000383009
  ensembl transcript: ENST00000400143
  gene symbol: ZBTB14
  hgvsc: ENST00000400143.3:c.4-25T>A
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463414
  ensembl transcript: ENST00000582135
  gene symbol: ZBTB14
  hgvsc: ENST00000582135.1:c.4-25T>A
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463555
  ensembl transcript: ENST00000582388
  gene symbol: ZBTB14
  hgvsc: ENST00000582388.1:c.4-25T>A
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl transcript: ENST00000585253
  gene symbol: ZBTB14
  hgvsc: ENST00000585253.1:n.405-25T>A
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000349503
  ensembl transcript: ENST00000357006
  gene symbol: ZBTB14
  hgvsc: ENST00000357006.4:c.4-25T>A
  variant of: http://identifiers.org/hgnc/12860
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18079
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16018
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19665
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1886
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20719
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25185
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1506
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

18-5292236-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5292236
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5292236
    reference: chr 18
allele count: 4
allele frequency: 1.390627172854957e-4
allele num: 28764
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000383009
  ensembl transcript: ENST00000400143
  gene symbol: ZBTB14
  hgvsc: ENST00000400143.3:c.4-33T>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463414
  ensembl transcript: ENST00000582135
  gene symbol: ZBTB14
  hgvsc: ENST00000582135.1:c.4-33T>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463555
  ensembl transcript: ENST00000582388
  gene symbol: ZBTB14
  hgvsc: ENST00000582388.1:c.4-33T>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000462112
  ensembl transcript: ENST00000578327
  gene symbol: ZBTB14
  hgvsc: ENST00000578327.1:c.4-33T>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000349503
  ensembl transcript: ENST00000357006
  gene symbol: ZBTB14
  hgvsc: ENST00000357006.4:c.4-33T>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl transcript: ENST00000585253
  gene symbol: ZBTB14
  hgvsc: ENST00000585253.1:n.405-33T>C
  variant of: http://identifiers.org/hgnc/12860
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11937
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18674
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23217
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2326
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2067
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3901
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23457
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

18-5292239-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5292239
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5292239
    reference: chr 18
allele count: 0
allele frequency: 0.0e0
allele num: 25218
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000383009
  ensembl transcript: ENST00000400143
  gene symbol: ZBTB14
  hgvsc: ENST00000400143.3:c.4-36C>G
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl transcript: ENST00000585253
  gene symbol: ZBTB14
  hgvsc: ENST00000585253.1:n.405-36C>G
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000462112
  ensembl transcript: ENST00000578327
  gene symbol: ZBTB14
  hgvsc: ENST00000578327.1:c.4-36C>G
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000349503
  ensembl transcript: ENST00000357006
  gene symbol: ZBTB14
  hgvsc: ENST00000357006.4:c.4-36C>G
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463414
  ensembl transcript: ENST00000582135
  gene symbol: ZBTB14
  hgvsc: ENST00000582135.1:c.4-36C>G
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463555
  ensembl transcript: ENST00000582388
  gene symbol: ZBTB14
  hgvsc: ENST00000582388.1:c.4-36C>G
  variant of: http://identifiers.org/hgnc/12860
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 19183
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23950
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3035
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4764
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23862
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1622
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16434
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

18-5292242-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5292242
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5292242
    reference: chr 18
allele count: 4
allele frequency: 1.86811133943583e-4
allele num: 21412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000462112
  ensembl transcript: ENST00000578327
  gene symbol: ZBTB14
  hgvsc: ENST00000578327.1:c.4-39G>A
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463414
  ensembl transcript: ENST00000582135
  gene symbol: ZBTB14
  hgvsc: ENST00000582135.1:c.4-39G>A
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000383009
  ensembl transcript: ENST00000400143
  gene symbol: ZBTB14
  hgvsc: ENST00000400143.3:c.4-39G>A
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463555
  ensembl transcript: ENST00000582388
  gene symbol: ZBTB14
  hgvsc: ENST00000582388.1:c.4-39G>A
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl transcript: ENST00000585253
  gene symbol: ZBTB14
  hgvsc: ENST00000585253.1:n.405-39G>A
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000349503
  ensembl transcript: ENST00000357006
  gene symbol: ZBTB14
  hgvsc: ENST00000357006.4:c.4-39G>A
  variant of: http://identifiers.org/hgnc/12860
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24590
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19941
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8684
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 3822
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 1558
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 5538
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
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genotype quality: GenotypeQuality
  all individuals: 54
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genotype quality: GenotypeQuality
  all individuals: 1559
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genotype quality: GenotypeQuality
  all individuals: 91
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 13924
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genotype quality: GenotypeQuality
  all individuals: 3536
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

18-5292243-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5292243
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5292243
    reference: chr 18
allele count: 2
allele frequency: 9.722897423432182e-5
allele num: 20570
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000383009
  ensembl transcript: ENST00000400143
  gene symbol: ZBTB14
  hgvsc: ENST00000400143.3:c.4-40A>G
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463555
  ensembl transcript: ENST00000582388
  gene symbol: ZBTB14
  hgvsc: ENST00000582388.1:c.4-40A>G
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl transcript: ENST00000585253
  gene symbol: ZBTB14
  hgvsc: ENST00000585253.1:n.405-40A>G
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463414
  ensembl transcript: ENST00000582135
  gene symbol: ZBTB14
  hgvsc: ENST00000582135.1:c.4-40A>G
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000349503
  ensembl transcript: ENST00000357006
  gene symbol: ZBTB14
  hgvsc: ENST00000357006.4:c.4-40A>G
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000462112
  ensembl transcript: ENST00000578327
  gene symbol: ZBTB14
  hgvsc: ENST00000578327.1:c.4-40A>G
  variant of: http://identifiers.org/hgnc/12860
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24685
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8270
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20169
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 178
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 13206
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genotype quality: GenotypeQuality
  all individuals: 1558
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5830
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 115
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genotype quality: GenotypeQuality
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

18-5292250-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5292250
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5292250
    reference: chr 18
allele count: 0
allele frequency: 0.0e0
allele num: 16196
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000383009
  ensembl transcript: ENST00000400143
  gene symbol: ZBTB14
  hgvsc: ENST00000400143.3:c.4-47A>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000462112
  ensembl transcript: ENST00000578327
  gene symbol: ZBTB14
  hgvsc: ENST00000578327.1:c.4-47A>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463555
  ensembl transcript: ENST00000582388
  gene symbol: ZBTB14
  hgvsc: ENST00000582388.1:c.4-47A>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463414
  ensembl transcript: ENST00000582135
  gene symbol: ZBTB14
  hgvsc: ENST00000582135.1:c.4-47A>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl transcript: ENST00000585253
  gene symbol: ZBTB14
  hgvsc: ENST00000585253.1:n.405-47A>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000349503
  ensembl transcript: ENST00000357006
  gene symbol: ZBTB14
  hgvsc: ENST00000357006.4:c.4-47A>C
  variant of: http://identifiers.org/hgnc/12860
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 6117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21714
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24945
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 1.75e1
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genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6416
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5314
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22148
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6940
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

18-5293203-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5293203
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5293203
    reference: chr 18
allele count: 3
allele frequency: 2.577762502148136e-5
allele num: 116380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463555
  ensembl transcript: ENST00000582388
  gene symbol: ZBTB14
  hgvsc: ENST00000582388.1:c.3+40C>T
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463414
  ensembl transcript: ENST00000582135
  gene symbol: ZBTB14
  hgvsc: ENST00000582135.1:c.3+40C>T
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000349503
  ensembl transcript: ENST00000357006
  gene symbol: ZBTB14
  hgvsc: ENST00000357006.4:c.3+40C>T
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000383009
  ensembl transcript: ENST00000400143
  gene symbol: ZBTB14
  hgvsc: ENST00000400143.3:c.3+40C>T
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl transcript: ENST00000585253
  gene symbol: ZBTB14
  hgvsc: ENST00000585253.1:n.404+40C>T
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000462112
  ensembl transcript: ENST00000578327
  gene symbol: ZBTB14
  hgvsc: ENST00000578327.1:c.3+40C>T
  variant of: http://identifiers.org/hgnc/12860
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6754
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7996
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10396
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4344
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3870
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3316
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3513
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 918
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2415
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 388
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genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1761
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2534
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum

18-5293205-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5293205
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5293205
    reference: chr 18
allele count: 11
allele frequency: 9.451958273900566e-5
allele num: 116378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463555
  ensembl transcript: ENST00000582388
  gene symbol: ZBTB14
  hgvsc: ENST00000582388.1:c.3+38G>A
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000383009
  ensembl transcript: ENST00000400143
  gene symbol: ZBTB14
  hgvsc: ENST00000400143.3:c.3+38G>A
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000349503
  ensembl transcript: ENST00000357006
  gene symbol: ZBTB14
  hgvsc: ENST00000357006.4:c.3+38G>A
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl transcript: ENST00000585253
  gene symbol: ZBTB14
  hgvsc: ENST00000585253.1:n.404+38G>A
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463414
  ensembl transcript: ENST00000582135
  gene symbol: ZBTB14
  hgvsc: ENST00000582135.1:c.3+38G>A
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000462112
  ensembl transcript: ENST00000578327
  gene symbol: ZBTB14
  hgvsc: ENST00000578327.1:c.3+38G>A
  variant of: http://identifiers.org/hgnc/12860
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10638
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4419
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22518
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7664
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5733
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2552
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5353
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1997
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3389
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1729
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
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genotype quality: GenotypeQuality
  all individuals: 493
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 1676
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3555
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

18-5293212-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5293212
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5293212
    reference: chr 18
allele count: 1
allele frequency: 8.573094201159083e-6
allele num: 116644
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000383009
  ensembl transcript: ENST00000400143
  gene symbol: ZBTB14
  hgvsc: ENST00000400143.3:c.3+31T>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000349503
  ensembl transcript: ENST00000357006
  gene symbol: ZBTB14
  hgvsc: ENST00000357006.4:c.3+31T>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl transcript: ENST00000585253
  gene symbol: ZBTB14
  hgvsc: ENST00000585253.1:n.404+31T>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000462112
  ensembl transcript: ENST00000578327
  gene symbol: ZBTB14
  hgvsc: ENST00000578327.1:c.3+31T>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463414
  ensembl transcript: ENST00000582135
  gene symbol: ZBTB14
  hgvsc: ENST00000582135.1:c.3+31T>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463555
  ensembl transcript: ENST00000582388
  gene symbol: ZBTB14
  hgvsc: ENST00000582388.1:c.3+31T>C
  variant of: http://identifiers.org/hgnc/12860
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3513
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 282
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genotype depth: GenotypeDepth
  all individuals: 1528
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3141
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 705
  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 85
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genotype quality: GenotypeQuality
  all individuals: 2089
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2526
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

18-5293214-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5293214
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5293214
    reference: chr 18
allele count: 1
allele frequency: 8.573535211509113e-6
allele num: 116638
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463414
  ensembl transcript: ENST00000582135
  gene symbol: ZBTB14
  hgvsc: ENST00000582135.1:c.3+29G>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl transcript: ENST00000585253
  gene symbol: ZBTB14
  hgvsc: ENST00000585253.1:n.404+29G>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000349503
  ensembl transcript: ENST00000357006
  gene symbol: ZBTB14
  hgvsc: ENST00000357006.4:c.3+29G>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000383009
  ensembl transcript: ENST00000400143
  gene symbol: ZBTB14
  hgvsc: ENST00000400143.3:c.3+29G>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000462112
  ensembl transcript: ENST00000578327
  gene symbol: ZBTB14
  hgvsc: ENST00000578327.1:c.3+29G>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463555
  ensembl transcript: ENST00000582388
  gene symbol: ZBTB14
  hgvsc: ENST00000582388.1:c.3+29G>C
  variant of: http://identifiers.org/hgnc/12860
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26204
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3034
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5924
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1762
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2605
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28520
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3094
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1436
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

18-5293221-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5293221
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5293221
    reference: chr 18
allele count: 1
allele frequency: 8.539417953272305e-6
allele num: 117104
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl transcript: ENST00000585253
  gene symbol: ZBTB14
  hgvsc: ENST00000585253.1:n.404+22A>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463414
  ensembl transcript: ENST00000582135
  gene symbol: ZBTB14
  hgvsc: ENST00000582135.1:c.3+22A>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000349503
  ensembl transcript: ENST00000357006
  gene symbol: ZBTB14
  hgvsc: ENST00000357006.4:c.3+22A>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000383009
  ensembl transcript: ENST00000400143
  gene symbol: ZBTB14
  hgvsc: ENST00000400143.3:c.3+22A>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000462112
  ensembl transcript: ENST00000578327
  gene symbol: ZBTB14
  hgvsc: ENST00000578327.1:c.3+22A>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463555
  ensembl transcript: ENST00000582388
  gene symbol: ZBTB14
  hgvsc: ENST00000582388.1:c.3+22A>C
  variant of: http://identifiers.org/hgnc/12860
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4537
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4597
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31572
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2132
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2862
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5830
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS

18-5293223-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5293223
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5293223
    reference: chr 18
allele count: 3
allele frequency: 2.560032768419436e-5
allele num: 117186
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000383009
  ensembl transcript: ENST00000400143
  gene symbol: ZBTB14
  hgvsc: ENST00000400143.3:c.3+20T>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463555
  ensembl transcript: ENST00000582388
  gene symbol: ZBTB14
  hgvsc: ENST00000582388.1:c.3+20T>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463414
  ensembl transcript: ENST00000582135
  gene symbol: ZBTB14
  hgvsc: ENST00000582135.1:c.3+20T>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl transcript: ENST00000585253
  gene symbol: ZBTB14
  hgvsc: ENST00000585253.1:n.404+20T>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000349503
  ensembl transcript: ENST00000357006
  gene symbol: ZBTB14
  hgvsc: ENST00000357006.4:c.3+20T>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000462112
  ensembl transcript: ENST00000578327
  gene symbol: ZBTB14
  hgvsc: ENST00000578327.1:c.3+20T>C
  variant of: http://identifiers.org/hgnc/12860
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11879
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29026
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5832
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 32141
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2768
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1811
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2713
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

18-5293226-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5293226
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5293226
    reference: chr 18
allele count: 1
allele frequency: 8.523259976475802e-6
allele num: 117326
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463555
  ensembl transcript: ENST00000582388
  gene symbol: ZBTB14
  hgvsc: ENST00000582388.1:c.3+17A>G
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000349503
  ensembl transcript: ENST00000357006
  gene symbol: ZBTB14
  hgvsc: ENST00000357006.4:c.3+17A>G
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl transcript: ENST00000585253
  gene symbol: ZBTB14
  hgvsc: ENST00000585253.1:n.404+17A>G
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000462112
  ensembl transcript: ENST00000578327
  gene symbol: ZBTB14
  hgvsc: ENST00000578327.1:c.3+17A>G
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000383009
  ensembl transcript: ENST00000400143
  gene symbol: ZBTB14
  hgvsc: ENST00000400143.3:c.3+17A>G
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463414
  ensembl transcript: ENST00000582135
  gene symbol: ZBTB14
  hgvsc: ENST00000582135.1:c.3+17A>G
  variant of: http://identifiers.org/hgnc/12860
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29507
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3807
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5797
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1790
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2702
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2735
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2137
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5831
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1631
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ

18-5293229-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5293229
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5293229
    reference: chr 18
allele count: 1
allele frequency: 8.514261387824607e-6
allele num: 117450
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000383009
  ensembl transcript: ENST00000400143
  gene symbol: ZBTB14
  hgvsc: ENST00000400143.3:c.3+14T>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463414
  ensembl transcript: ENST00000582135
  gene symbol: ZBTB14
  hgvsc: ENST00000582135.1:c.3+14T>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000462112
  ensembl transcript: ENST00000578327
  gene symbol: ZBTB14
  hgvsc: ENST00000578327.1:c.3+14T>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000349503
  ensembl transcript: ENST00000357006
  gene symbol: ZBTB14
  hgvsc: ENST00000357006.4:c.3+14T>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463555
  ensembl transcript: ENST00000582388
  gene symbol: ZBTB14
  hgvsc: ENST00000582388.1:c.3+14T>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl transcript: ENST00000585253
  gene symbol: ZBTB14
  hgvsc: ENST00000585253.1:n.404+14T>C
  variant of: http://identifiers.org/hgnc/12860
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29903
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4680
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5830
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33250
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1419
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2601
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5845
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

18-5293236-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5293236
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5293236
    reference: chr 18
allele count: 1
allele frequency: 8.489685032685287e-6
allele num: 117790
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000383009
  ensembl transcript: ENST00000400143
  gene symbol: ZBTB14
  hgvsc: ENST00000400143.3:c.3+7A>G
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463555
  ensembl transcript: ENST00000582388
  gene symbol: ZBTB14
  hgvsc: ENST00000582388.1:c.3+7A>G
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000462112
  ensembl transcript: ENST00000578327
  gene symbol: ZBTB14
  hgvsc: ENST00000578327.1:c.3+7A>G
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463414
  ensembl transcript: ENST00000582135
  gene symbol: ZBTB14
  hgvsc: ENST00000582135.1:c.3+7A>G
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000349503
  ensembl transcript: ENST00000357006
  gene symbol: ZBTB14
  hgvsc: ENST00000357006.4:c.3+7A>G
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl transcript: ENST00000585253
  gene symbol: ZBTB14
  hgvsc: ENST00000585253.1:n.404+7A>G
  variant of: http://identifiers.org/hgnc/12860
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30649
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4702
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2171
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2419
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
hgvs: c.3+7A>G
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

18-5293239-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5293239
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5293239
    reference: chr 18
allele count: 2
allele frequency: 1.696755802904846e-5
allele num: 117872
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl transcript: ENST00000585253
  gene symbol: ZBTB14
  hgvsc: ENST00000585253.1:n.404+4A>G
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463555
  ensembl transcript: ENST00000582388
  gene symbol: ZBTB14
  hgvsc: ENST00000582388.1:c.3+4A>G
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000349503
  ensembl transcript: ENST00000357006
  gene symbol: ZBTB14
  hgvsc: ENST00000357006.4:c.3+4A>G
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000462112
  ensembl transcript: ENST00000578327
  gene symbol: ZBTB14
  hgvsc: ENST00000578327.1:c.3+4A>G
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463414
  ensembl transcript: ENST00000582135
  gene symbol: ZBTB14
  hgvsc: ENST00000582135.1:c.3+4A>G
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000383009
  ensembl transcript: ENST00000400143
  gene symbol: ZBTB14
  hgvsc: ENST00000400143.3:c.3+4A>G
  variant of: http://identifiers.org/hgnc/12860
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12614
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2769
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5922
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34292
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5831
  bin: 9.75e1
  variant carriers: 2
hgvs: c.3+4A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/18-5293250-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5293250
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5293250
    reference: chr 18
allele count: 1
allele frequency: 8.45809016324114e-6
allele num: 118230
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463555
  ensembl transcript: ENST00000582388
  gene symbol: ZBTB14
  hgvsc: ENST00000582388.1:c.-5T>G
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463414
  ensembl transcript: ENST00000582135
  gene symbol: ZBTB14
  hgvsc: ENST00000582135.1:c.-5T>G
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000349503
  ensembl transcript: ENST00000357006
  gene symbol: ZBTB14
  hgvsc: ENST00000357006.4:c.-5T>G
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000462112
  ensembl transcript: ENST00000578327
  gene symbol: ZBTB14
  hgvsc: ENST00000578327.1:c.-5T>G
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000383009
  ensembl transcript: ENST00000400143
  gene symbol: ZBTB14
  hgvsc: ENST00000400143.3:c.-5T>G
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198081
  ensembl transcript: ENST00000585253
  gene symbol: ZBTB14
  hgvsc: ENST00000585253.1:n.397T>G
  variant of: http://identifiers.org/hgnc/12860
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 13001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4753
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2345
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5830
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1797
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2760
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34431
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

18-5293258-CTAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5293258
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5293255
    reference: chr 18
allele count: 11
allele frequency: 9.300909798085703e-5
allele num: 118268
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463555
  ensembl transcript: ENST00000582388
  gene symbol: ZBTB14
  hgvsc: ENST00000582388.1:c.-16_-14delATA
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000383009
  ensembl transcript: ENST00000400143
  gene symbol: ZBTB14
  hgvsc: ENST00000400143.3:c.-16_-14delATA
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000349503
  ensembl transcript: ENST00000357006
  gene symbol: ZBTB14
  hgvsc: ENST00000357006.4:c.-16_-14delATA
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198081
  ensembl transcript: ENST00000585253
  gene symbol: ZBTB14
  hgvsc: ENST00000585253.1:n.386_388delATA
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463414
  ensembl transcript: ENST00000582135
  gene symbol: ZBTB14
  hgvsc: ENST00000582135.1:c.-16_-14delATA
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000462112
  ensembl transcript: ENST00000578327
  gene symbol: ZBTB14
  hgvsc: ENST00000578327.1:c.-16_-14delATA
  variant of: http://identifiers.org/hgnc/12860
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13328
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4807
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29264
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5955
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: CTAT
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

18-5293260-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5293260
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5293260
    reference: chr 18
allele count: 2
allele frequency: 1.69090294217112e-5
allele num: 118280
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000349503
  ensembl transcript: ENST00000357006
  gene symbol: ZBTB14
  hgvsc: ENST00000357006.4:c.-15T>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000383009
  ensembl transcript: ENST00000400143
  gene symbol: ZBTB14
  hgvsc: ENST00000400143.3:c.-15T>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000462112
  ensembl transcript: ENST00000578327
  gene symbol: ZBTB14
  hgvsc: ENST00000578327.1:c.-15T>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463555
  ensembl transcript: ENST00000582388
  gene symbol: ZBTB14
  hgvsc: ENST00000582388.1:c.-15T>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463414
  ensembl transcript: ENST00000582135
  gene symbol: ZBTB14
  hgvsc: ENST00000582135.1:c.-15T>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198081
  ensembl transcript: ENST00000585253
  gene symbol: ZBTB14
  hgvsc: ENST00000585253.1:n.387T>C
  variant of: http://identifiers.org/hgnc/12860
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4779
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13374
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1785
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2169
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5830
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2542
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32565
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

18-5293265-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5293265
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5293265
    reference: chr 18
allele count: 16
allele frequency: 1.352790976884184e-4
allele num: 118274
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198081
  ensembl transcript: ENST00000585253
  gene symbol: ZBTB14
  hgvsc: ENST00000585253.1:n.382G>A
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463555
  ensembl transcript: ENST00000582388
  gene symbol: ZBTB14
  hgvsc: ENST00000582388.1:c.-20G>A
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463414
  ensembl transcript: ENST00000582135
  gene symbol: ZBTB14
  hgvsc: ENST00000582135.1:c.-20G>A
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000462112
  ensembl transcript: ENST00000578327
  gene symbol: ZBTB14
  hgvsc: ENST00000578327.1:c.-20G>A
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000383009
  ensembl transcript: ENST00000400143
  gene symbol: ZBTB14
  hgvsc: ENST00000400143.3:c.-20G>A
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000349503
  ensembl transcript: ENST00000357006
  gene symbol: ZBTB14
  hgvsc: ENST00000357006.4:c.-20G>A
  variant of: http://identifiers.org/hgnc/12860
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13237
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27140
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4811
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1461
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2703
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 711
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5885
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2724
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

18-5293279-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5293279
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5293279
    reference: chr 18
allele count: 5
allele frequency: 4.23169369308372e-5
allele num: 118156
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463414
  ensembl transcript: ENST00000582135
  gene symbol: ZBTB14
  hgvsc: ENST00000582135.1:c.-34G>A
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000383009
  ensembl transcript: ENST00000400143
  gene symbol: ZBTB14
  hgvsc: ENST00000400143.3:c.-34G>A
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000349503
  ensembl transcript: ENST00000357006
  gene symbol: ZBTB14
  hgvsc: ENST00000357006.4:c.-34G>A
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000462112
  ensembl transcript: ENST00000578327
  gene symbol: ZBTB14
  hgvsc: ENST00000578327.1:c.-34G>A
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463555
  ensembl transcript: ENST00000582388
  gene symbol: ZBTB14
  hgvsc: ENST00000582388.1:c.-34G>A
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198081
  ensembl transcript: ENST00000585253
  gene symbol: ZBTB14
  hgvsc: ENST00000585253.1:n.368G>A
  variant of: http://identifiers.org/hgnc/12860
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12695
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6781
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4574
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23007
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1499
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5831
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2931
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2769
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1514
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2980
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

18-5293280-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5293280
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5293280
    reference: chr 18
allele count: 1
allele frequency: 8.469551960701279e-6
allele num: 118070
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000383009
  ensembl transcript: ENST00000400143
  gene symbol: ZBTB14
  hgvsc: ENST00000400143.3:c.-35C>T
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198081
  ensembl transcript: ENST00000585253
  gene symbol: ZBTB14
  hgvsc: ENST00000585253.1:n.367C>T
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000462112
  ensembl transcript: ENST00000578327
  gene symbol: ZBTB14
  hgvsc: ENST00000578327.1:c.-35C>T
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463414
  ensembl transcript: ENST00000582135
  gene symbol: ZBTB14
  hgvsc: ENST00000582135.1:c.-35C>T
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463555
  ensembl transcript: ENST00000582388
  gene symbol: ZBTB14
  hgvsc: ENST00000582388.1:c.-35C>T
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000349503
  ensembl transcript: ENST00000357006
  gene symbol: ZBTB14
  hgvsc: ENST00000357006.4:c.-35C>T
  variant of: http://identifiers.org/hgnc/12860
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12735
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22458
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4602
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2097
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25934
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1665
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2987
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5591
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2862
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

18-5293282-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5293282
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5293282
    reference: chr 18
allele count: 1
allele frequency: 8.490261669864665e-6
allele num: 117782
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463414
  ensembl transcript: ENST00000582135
  gene symbol: ZBTB14
  hgvsc: ENST00000582135.1:c.-37G>A
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000349503
  ensembl transcript: ENST00000357006
  gene symbol: ZBTB14
  hgvsc: ENST00000357006.4:c.-37G>A
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463555
  ensembl transcript: ENST00000582388
  gene symbol: ZBTB14
  hgvsc: ENST00000582388.1:c.-37G>A
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000383009
  ensembl transcript: ENST00000400143
  gene symbol: ZBTB14
  hgvsc: ENST00000400143.3:c.-37G>A
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198081
  ensembl transcript: ENST00000585253
  gene symbol: ZBTB14
  hgvsc: ENST00000585253.1:n.365G>A
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000462112
  ensembl transcript: ENST00000578327
  gene symbol: ZBTB14
  hgvsc: ENST00000578327.1:c.-37G>A
  variant of: http://identifiers.org/hgnc/12860
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4649
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8603
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3097
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5822
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1614
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1790
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2610
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23608
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

18-5293288-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5293288
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5293288
    reference: chr 18
allele count: 2
allele frequency: 1.693222032205083e-5
allele num: 118118
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463414
  ensembl transcript: ENST00000582135
  gene symbol: ZBTB14
  hgvsc: ENST00000582135.1:c.-43G>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463555
  ensembl transcript: ENST00000582388
  gene symbol: ZBTB14
  hgvsc: ENST00000582388.1:c.-43G>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000349503
  ensembl transcript: ENST00000357006
  gene symbol: ZBTB14
  hgvsc: ENST00000357006.4:c.-43G>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000383009
  ensembl transcript: ENST00000400143
  gene symbol: ZBTB14
  hgvsc: ENST00000400143.3:c.-43G>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198081
  ensembl transcript: ENST00000585253
  gene symbol: ZBTB14
  hgvsc: ENST00000585253.1:n.359G>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000462112
  ensembl transcript: ENST00000578327
  gene symbol: ZBTB14
  hgvsc: ENST00000578327.1:c.-43G>C
  variant of: http://identifiers.org/hgnc/12860
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4758
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20415
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4705
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9895
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1523
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5827
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1701
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4059
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2978
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2627
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3535
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1751
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

18-5293291-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5293291
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5293291
    reference: chr 18
allele count: 1
allele frequency: 8.477593719798572e-6
allele num: 117958
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463555
  ensembl transcript: ENST00000582388
  gene symbol: ZBTB14
  hgvsc: ENST00000582388.1:c.-46G>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000463414
  ensembl transcript: ENST00000582135
  gene symbol: ZBTB14
  hgvsc: ENST00000582135.1:c.-46G>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198081
  ensembl transcript: ENST00000585253
  gene symbol: ZBTB14
  hgvsc: ENST00000585253.1:n.356G>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000349503
  ensembl transcript: ENST00000357006
  gene symbol: ZBTB14
  hgvsc: ENST00000357006.4:c.-46G>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000462112
  ensembl transcript: ENST00000578327
  gene symbol: ZBTB14
  hgvsc: ENST00000578327.1:c.-46G>C
  variant of: http://identifiers.org/hgnc/12860
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198081
  ensembl protein: ENSP00000383009
  ensembl transcript: ENST00000400143
  gene symbol: ZBTB14
  hgvsc: ENST00000400143.3:c.-46G>C
  variant of: http://identifiers.org/hgnc/12860
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4726
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9843
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20797
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4565
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2923
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2053
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2607
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2504
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3250
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4227
  bin: 3.75e1
  variant carriers: 0
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: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS

18-5393422-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5393422
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5393422
    reference: chr 18
allele count: 3
allele frequency: 2.457002457002457e-4
allele num: 12210
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442233
  ensembl transcript: ENST00000542146
  gene symbol: EPB41L3
  hgvsc: ENST00000542146.1:c.*62C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.*62C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000392195
  ensembl transcript: ENST00000427684
  gene symbol: EPB41L3
  hgvsc: ENST00000427684.2:c.*62C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.*62C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578618
  gene symbol: EPB41L3
  hgvsc: ENST00000578618.1:n.3871C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.*50C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000542652
  gene symbol: EPB41L3
  hgvsc: ENST00000542652.2:n.2224C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.2870C>T
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

18-5393438-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5393438
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5393438
    reference: chr 18
allele count: 2
allele frequency: 1.638806948541462e-4
allele num: 12204
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.2854G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578618
  gene symbol: EPB41L3
  hgvsc: ENST00000578618.1:n.3855G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442233
  ensembl transcript: ENST00000542146
  gene symbol: EPB41L3
  hgvsc: ENST00000542146.1:c.*46G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.*34G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.*46G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000392195
  ensembl transcript: ENST00000427684
  gene symbol: EPB41L3
  hgvsc: ENST00000427684.2:c.*46G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000542652
  gene symbol: EPB41L3
  hgvsc: ENST00000542652.2:n.2208G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.*46G>A
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

18-5393453-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5393453
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5393453
    reference: chr 18
allele count: 1
allele frequency: 8.18732601932209e-5
allele num: 12214
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000542652
  gene symbol: EPB41L3
  hgvsc: ENST00000542652.2:n.2193G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.2839G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442233
  ensembl transcript: ENST00000542146
  gene symbol: EPB41L3
  hgvsc: ENST00000542146.1:c.*31G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.*31G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000392195
  ensembl transcript: ENST00000427684
  gene symbol: EPB41L3
  hgvsc: ENST00000427684.2:c.*31G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578618
  gene symbol: EPB41L3
  hgvsc: ENST00000578618.1:n.3840G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.*19G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.*31G>A
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

18-5393468-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5393468
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5393468
    reference: chr 18
allele count: 2
allele frequency: 1.638806948541462e-4
allele num: 12204
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.*4A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000392195
  ensembl transcript: ENST00000427684
  gene symbol: EPB41L3
  hgvsc: ENST00000427684.2:c.*16A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.*16A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442233
  ensembl transcript: ENST00000542146
  gene symbol: EPB41L3
  hgvsc: ENST00000542146.1:c.*16A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000542652
  gene symbol: EPB41L3
  hgvsc: ENST00000542652.2:n.2178A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578618
  gene symbol: EPB41L3
  hgvsc: ENST00000578618.1:n.3825A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.*16A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.2824A>G
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

18-5393490-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5393490
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5393490
    reference: chr 18
allele count: 15
allele frequency: 1.236807387862797e-3
allele num: 12128
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578618
  gene symbol: EPB41L3
  hgvsc: ENST00000578618.1:n.3803G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000392195
  ensembl transcript: ENST00000427684
  gene symbol: EPB41L3
  hgvsc: ENST00000427684.2:c.*7-13G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.2815-13G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.*7-13G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442233
  ensembl transcript: ENST00000542146
  gene symbol: EPB41L3
  hgvsc: ENST00000542146.1:c.*7-13G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.2647-13G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000542652
  gene symbol: EPB41L3
  hgvsc: ENST00000542652.2:n.2169-13G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.*7-13G>C
  variant of: http://identifiers.org/hgnc/3380
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/18-5393506-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5393506
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5393506
    reference: chr 18
allele count: 1
allele frequency: 8.275405494869249e-5
allele num: 12084
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000542652
  gene symbol: EPB41L3
  hgvsc: ENST00000542652.2:n.2169-29G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578618
  gene symbol: EPB41L3
  hgvsc: ENST00000578618.1:n.3787G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442233
  ensembl transcript: ENST00000542146
  gene symbol: EPB41L3
  hgvsc: ENST00000542146.1:c.*7-29G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.*7-29G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000392195
  ensembl transcript: ENST00000427684
  gene symbol: EPB41L3
  hgvsc: ENST00000427684.2:c.*7-29G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.2815-29G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.2647-29G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.*7-29G>T
  variant of: http://identifiers.org/hgnc/3380
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

18-5393526-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5393526
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5393527
    reference: chr 18
allele count: 1
allele frequency: 8.350033400133601e-5
allele num: 11976
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578618
  gene symbol: EPB41L3
  hgvsc: ENST00000578618.1:n.3766dupA
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.2647-50dupA
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.*7-50dupA
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442233
  ensembl transcript: ENST00000542146
  gene symbol: EPB41L3
  hgvsc: ENST00000542146.1:c.*7-50dupA
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000392195
  ensembl transcript: ENST00000427684
  gene symbol: EPB41L3
  hgvsc: ENST00000427684.2:c.*7-50dupA
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.2815-50dupA
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000542652
  gene symbol: EPB41L3
  hgvsc: ENST00000542652.2:n.2169-50dupA
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.*7-50dupA
  variant of: http://identifiers.org/hgnc/3380
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

18-5394634-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5394634
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5394634
    reference: chr 18
allele count: 1
allele frequency: 8.364141253617491e-6
allele num: 119558
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000542652
  gene symbol: EPB41L3
  hgvsc: ENST00000542652.2:n.2168+42A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.2646+432A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442233
  ensembl transcript: ENST00000542146
  gene symbol: EPB41L3
  hgvsc: ENST00000542146.1:c.*6+42A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.*6+42A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000392195
  ensembl transcript: ENST00000427684
  gene symbol: EPB41L3
  hgvsc: ENST00000427684.2:c.*6+42A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578618
  gene symbol: EPB41L3
  hgvsc: ENST00000578618.1:n.2659A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.2814+42A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.*6+42A>G
  variant of: http://identifiers.org/hgnc/3380
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3589
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9343
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3056
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17494
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

18-5394636-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5394636
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5394636
    reference: chr 18
allele count: 1
allele frequency: 8.37885846432282e-6
allele num: 119348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.2814+40G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578618
  gene symbol: EPB41L3
  hgvsc: ENST00000578618.1:n.2657G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000392195
  ensembl transcript: ENST00000427684
  gene symbol: EPB41L3
  hgvsc: ENST00000427684.2:c.*6+40G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.*6+40G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.*6+40G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000542652
  gene symbol: EPB41L3
  hgvsc: ENST00000542652.2:n.2168+40G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442233
  ensembl transcript: ENST00000542146
  gene symbol: EPB41L3
  hgvsc: ENST00000542146.1:c.*6+40G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.2646+430G>A
  variant of: http://identifiers.org/hgnc/3380
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15041
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3887
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17926
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1451
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

18-5394649-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5394649
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5394649
    reference: chr 18
allele count: 1
allele frequency: 8.344459279038718e-6
allele num: 119840
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.2646+417C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.*6+27C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442233
  ensembl transcript: ENST00000542146
  gene symbol: EPB41L3
  hgvsc: ENST00000542146.1:c.*6+27C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578618
  gene symbol: EPB41L3
  hgvsc: ENST00000578618.1:n.2644C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000542652
  gene symbol: EPB41L3
  hgvsc: ENST00000542652.2:n.2168+27C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.*6+27C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000392195
  ensembl transcript: ENST00000427684
  gene symbol: EPB41L3
  hgvsc: ENST00000427684.2:c.*6+27C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.2814+27C>T
  variant of: http://identifiers.org/hgnc/3380
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15974
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3885
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11389
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3747
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22248
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 2.25e1
  variant carriers: 0
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: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/18-5394660-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5394660
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5394660
    reference: chr 18
allele count: 4
allele frequency: 3.328174662606294e-5
allele num: 120186
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.2646+406G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000542652
  gene symbol: EPB41L3
  hgvsc: ENST00000542652.2:n.2168+16G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578618
  gene symbol: EPB41L3
  hgvsc: ENST00000578618.1:n.2633G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.*6+16G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.2814+16G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442233
  ensembl transcript: ENST00000542146
  gene symbol: EPB41L3
  hgvsc: ENST00000542146.1:c.*6+16G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.*6+16G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000392195
  ensembl transcript: ENST00000427684
  gene symbol: EPB41L3
  hgvsc: ENST00000427684.2:c.*6+16G>T
  variant of: http://identifiers.org/hgnc/3380
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7009
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2209
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP

18-5394660-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5394660
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5394660
    reference: chr 18
allele count: 2
allele frequency: 1.664087331303147e-5
allele num: 120186
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.2646+406G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442233
  ensembl transcript: ENST00000542146
  gene symbol: EPB41L3
  hgvsc: ENST00000542146.1:c.*6+16G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000392195
  ensembl transcript: ENST00000427684
  gene symbol: EPB41L3
  hgvsc: ENST00000427684.2:c.*6+16G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.2814+16G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578618
  gene symbol: EPB41L3
  hgvsc: ENST00000578618.1:n.2633G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000542652
  gene symbol: EPB41L3
  hgvsc: ENST00000542652.2:n.2168+16G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.*6+16G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.*6+16G>A
  variant of: http://identifiers.org/hgnc/3380
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16495
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3765
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2923
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2779
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

18-5394666-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5394666
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5394666
    reference: chr 18
allele count: 1
allele frequency: 8.29393713195654e-6
allele num: 120570
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.2814+10G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578618
  gene symbol: EPB41L3
  hgvsc: ENST00000578618.1:n.2627G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442233
  ensembl transcript: ENST00000542146
  gene symbol: EPB41L3
  hgvsc: ENST00000542146.1:c.*6+10G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000392195
  ensembl transcript: ENST00000427684
  gene symbol: EPB41L3
  hgvsc: ENST00000427684.2:c.*6+10G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.*6+10G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.*6+10G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.2646+400G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000542652
  gene symbol: EPB41L3
  hgvsc: ENST00000542652.2:n.2168+10G>A
  variant of: http://identifiers.org/hgnc/3380
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2876
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16853
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7120
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14820
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/18-5394667-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5394667
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5394667
    reference: chr 18
allele count: 1
allele frequency: 8.289674381590291e-6
allele num: 120632
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000542652
  gene symbol: EPB41L3
  hgvsc: ENST00000542652.2:n.2168+9T>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.2646+399T>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.*6+9T>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442233
  ensembl transcript: ENST00000542146
  gene symbol: EPB41L3
  hgvsc: ENST00000542146.1:c.*6+9T>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000392195
  ensembl transcript: ENST00000427684
  gene symbol: EPB41L3
  hgvsc: ENST00000427684.2:c.*6+9T>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.*6+9T>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578618
  gene symbol: EPB41L3
  hgvsc: ENST00000578618.1:n.2626T>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.2814+9T>G
  variant of: http://identifiers.org/hgnc/3380
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3887
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2876
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3783
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

18-5394669-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5394669
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5394669
    reference: chr 18
allele count: 6
allele frequency: 4.970343616422015e-5
allele num: 120716
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000392195
  ensembl transcript: ENST00000427684
  gene symbol: EPB41L3
  hgvsc: ENST00000427684.2:c.*6+7G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578618
  gene symbol: EPB41L3
  hgvsc: ENST00000578618.1:n.2624G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442233
  ensembl transcript: ENST00000542146
  gene symbol: EPB41L3
  hgvsc: ENST00000542146.1:c.*6+7G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.*6+7G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.2814+7G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000542652
  gene symbol: EPB41L3
  hgvsc: ENST00000542652.2:n.2168+7G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.2646+397G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.*6+7G>A
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12562
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7168
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  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: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2936
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24427
  bin: 6.25e1
  variant carriers: 0
hgvs: c.*6+7G>A
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

18-5394679-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5394679
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5394679
    reference: chr 18
allele count: 6
allele frequency: 4.957776272082762e-5
allele num: 121022
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442233
  ensembl transcript: ENST00000542146
  gene symbol: EPB41L3
  hgvsc: ENST00000542146.1:c.*3A>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.2811A>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000392195
  ensembl transcript: ENST00000427684
  gene symbol: EPB41L3
  hgvsc: ENST00000427684.2:c.*3A>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.*3A>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578618
  gene symbol: EPB41L3
  hgvsc: ENST00000578618.1:n.2614A>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000542652
  gene symbol: EPB41L3
  hgvsc: ENST00000542652.2:n.2165A>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.*3A>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.2646+387A>C
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3885
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12757
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3780
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

18-5394682-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5394682
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5394682
    reference: chr 18
allele count: 3
allele frequency: 2.477700693756194e-5
allele num: 121080
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.2598A>G
  hgvsp: ENSP00000382981.3:p.Ter866TrpextTer?
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: stop_lost
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.3264A>G
  hgvsp: ENSP00000343158.2:p.Ter1088TrpextTer4
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578618
  gene symbol: EPB41L3
  hgvsc: ENST00000578618.1:n.2611A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000392195
  ensembl transcript: ENST00000427684
  gene symbol: EPB41L3
  hgvsc: ENST00000427684.2:c.1155A>G
  hgvsp: ENSP00000392195.2:p.Ter385TrpextTer4
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.3264A>G
  hgvsp: ENSP00000341138.3:p.Ter1088TrpextTer?
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.2598A>G
  hgvsp: ENSP00000442091.2:p.Ter866TrpextTer4
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.2646+384A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442233
  ensembl transcript: ENST00000542146
  gene symbol: EPB41L3
  hgvsc: ENST00000542146.1:c.1179A>G
  hgvsp: ENSP00000442233.1:p.Ter393TrpextTer4
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.2808A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000542652
  gene symbol: EPB41L3
  hgvsc: ENST00000542652.2:n.2162A>G
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3884
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9770
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3781
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ter1088TrpextTer4
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

18-5394685-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5394685
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5394685
    reference: chr 18
allele count: 1
allele frequency: 8.254366559910193e-6
allele num: 121148
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.2595T>C
  hgvsp: ENST00000400111.3:c.2595T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000542652
  gene symbol: EPB41L3
  hgvsc: ENST00000542652.2:n.2159T>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.3261T>C
  hgvsp: ENST00000341928.2:c.3261T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000392195
  ensembl transcript: ENST00000427684
  gene symbol: EPB41L3
  hgvsc: ENST00000427684.2:c.1152T>C
  hgvsp: ENST00000427684.2:c.1152T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.3261T>C
  hgvsp: ENST00000342933.3:c.3261T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442233
  ensembl transcript: ENST00000542146
  gene symbol: EPB41L3
  hgvsc: ENST00000542146.1:c.1176T>C
  hgvsp: ENST00000542146.1:c.1176T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578618
  gene symbol: EPB41L3
  hgvsc: ENST00000578618.1:n.2608T>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.2595T>C
  hgvsp: ENST00000540638.2:c.2595T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.2646+381T>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.2805T>C
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp1087Asp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

18-5394685-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5394685
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5394685
    reference: chr 18
allele count: 29
allele frequency: 2.393766302373956e-4
allele num: 121148
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.3261T>A
  hgvsp: ENSP00000343158.2:p.Asp1087Glu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000392195
  ensembl transcript: ENST00000427684
  gene symbol: EPB41L3
  hgvsc: ENST00000427684.2:c.1152T>A
  hgvsp: ENSP00000392195.2:p.Asp384Glu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.2595T>A
  hgvsp: ENSP00000382981.3:p.Asp865Glu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.3261T>A
  hgvsp: ENSP00000341138.3:p.Asp1087Glu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442233
  ensembl transcript: ENST00000542146
  gene symbol: EPB41L3
  hgvsc: ENST00000542146.1:c.1176T>A
  hgvsp: ENSP00000442233.1:p.Asp392Glu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000542652
  gene symbol: EPB41L3
  hgvsc: ENST00000542652.2:n.2159T>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578618
  gene symbol: EPB41L3
  hgvsc: ENST00000578618.1:n.2608T>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.2595T>A
  hgvsp: ENSP00000442091.2:p.Asp865Glu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.2805T>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.2646+381T>A
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17298
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5345
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3883
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12787
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp1087Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP

18-5394686-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5394686
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5394686
    reference: chr 18
allele count: 4
allele frequency: 3.301256127956687e-5
allele num: 121166
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.2646+380A>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442233
  ensembl transcript: ENST00000542146
  gene symbol: EPB41L3
  hgvsc: ENST00000542146.1:c.1175A>T
  hgvsp: ENSP00000442233.1:p.Asp392Val
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.3260A>T
  hgvsp: ENSP00000343158.2:p.Asp1087Val
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000542652
  gene symbol: EPB41L3
  hgvsc: ENST00000542652.2:n.2158A>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.2804A>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578618
  gene symbol: EPB41L3
  hgvsc: ENST00000578618.1:n.2607A>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000392195
  ensembl transcript: ENST00000427684
  gene symbol: EPB41L3
  hgvsc: ENST00000427684.2:c.1151A>T
  hgvsp: ENSP00000392195.2:p.Asp384Val
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.2594A>T
  hgvsp: ENSP00000442091.2:p.Asp865Val
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.2594A>T
  hgvsp: ENSP00000382981.3:p.Asp865Val
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.3260A>T
  hgvsp: ENSP00000341138.3:p.Asp1087Val
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3884
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12804
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9777
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2922
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp1087Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/18-5394690-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5394690
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5394690
    reference: chr 18
allele count: 5
allele frequency: 4.124731892426992e-5
allele num: 121220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.2800G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578618
  gene symbol: EPB41L3
  hgvsc: ENST00000578618.1:n.2603G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.3256G>T
  hgvsp: ENSP00000343158.2:p.Glu1086Ter
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.2590G>T
  hgvsp: ENSP00000382981.3:p.Glu864Ter
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000542652
  gene symbol: EPB41L3
  hgvsc: ENST00000542652.2:n.2154G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.2590G>T
  hgvsp: ENSP00000442091.2:p.Glu864Ter
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.3256G>T
  hgvsp: ENSP00000341138.3:p.Glu1086Ter
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000392195
  ensembl transcript: ENST00000427684
  gene symbol: EPB41L3
  hgvsc: ENST00000427684.2:c.1147G>T
  hgvsp: ENSP00000392195.2:p.Glu383Ter
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442233
  ensembl transcript: ENST00000542146
  gene symbol: EPB41L3
  hgvsc: ENST00000542146.1:c.1171G>T
  hgvsp: ENSP00000442233.1:p.Glu391Ter
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.2646+376G>T
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2924
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu1086Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

18-5394690-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5394690
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5394690
    reference: chr 18
allele count: 1
allele frequency: 8.249463784853985e-6
allele num: 121220
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.2646+376G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.2590G>A
  hgvsp: ENSP00000382981.3:p.Glu864Lys
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000392195
  ensembl transcript: ENST00000427684
  gene symbol: EPB41L3
  hgvsc: ENST00000427684.2:c.1147G>A
  hgvsp: ENSP00000392195.2:p.Glu383Lys
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.3256G>A
  hgvsp: ENSP00000341138.3:p.Glu1086Lys
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.2590G>A
  hgvsp: ENSP00000442091.2:p.Glu864Lys
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.3256G>A
  hgvsp: ENSP00000343158.2:p.Glu1086Lys
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578618
  gene symbol: EPB41L3
  hgvsc: ENST00000578618.1:n.2603G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442233
  ensembl transcript: ENST00000542146
  gene symbol: EPB41L3
  hgvsc: ENST00000542146.1:c.1171G>A
  hgvsp: ENSP00000442233.1:p.Glu391Lys
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.2800G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000542652
  gene symbol: EPB41L3
  hgvsc: ENST00000542652.2:n.2154G>A
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu1086Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS

18-5394690-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5394690
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5394690
    reference: chr 18
allele count: 1
allele frequency: 8.249463784853985e-6
allele num: 121220
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.2646+376G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000392195
  ensembl transcript: ENST00000427684
  gene symbol: EPB41L3
  hgvsc: ENST00000427684.2:c.1147G>C
  hgvsp: ENSP00000392195.2:p.Glu383Gln
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.3256G>C
  hgvsp: ENSP00000341138.3:p.Glu1086Gln
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578618
  gene symbol: EPB41L3
  hgvsc: ENST00000578618.1:n.2603G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442233
  ensembl transcript: ENST00000542146
  gene symbol: EPB41L3
  hgvsc: ENST00000542146.1:c.1171G>C
  hgvsp: ENSP00000442233.1:p.Glu391Gln
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.3256G>C
  hgvsp: ENSP00000343158.2:p.Glu1086Gln
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.2800G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.2590G>C
  hgvsp: ENSP00000442091.2:p.Glu864Gln
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000542652
  gene symbol: EPB41L3
  hgvsc: ENST00000542652.2:n.2154G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.2590G>C
  hgvsp: ENSP00000382981.3:p.Glu864Gln
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14815
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu1086Gln
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum

18-5394699-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5394699
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5394699
    reference: chr 18
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000542652
  gene symbol: EPB41L3
  hgvsc: ENST00000542652.2:n.2145G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.2581G>A
  hgvsp: ENSP00000382981.3:p.Glu861Lys
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.2581G>A
  hgvsp: ENSP00000442091.2:p.Glu861Lys
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.3247G>A
  hgvsp: ENSP00000343158.2:p.Glu1083Lys
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442233
  ensembl transcript: ENST00000542146
  gene symbol: EPB41L3
  hgvsc: ENST00000542146.1:c.1162G>A
  hgvsp: ENSP00000442233.1:p.Glu388Lys
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578618
  gene symbol: EPB41L3
  hgvsc: ENST00000578618.1:n.2594G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.2646+367G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.2791G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000392195
  ensembl transcript: ENST00000427684
  gene symbol: EPB41L3
  hgvsc: ENST00000427684.2:c.1138G>A
  hgvsp: ENSP00000392195.2:p.Glu380Lys
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.3247G>A
  hgvsp: ENSP00000341138.3:p.Glu1083Lys
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25293
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu1083Lys
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum

18-5394721-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5394721
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5394721
    reference: chr 18
allele count: 5
allele frequency: 4.119566292060772e-5
allele num: 121372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000542652
  gene symbol: EPB41L3
  hgvsc: ENST00000542652.2:n.2123T>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.2559T>C
  hgvsp: ENST00000400111.3:c.2559T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.2646+345T>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.2559T>C
  hgvsp: ENST00000540638.2:c.2559T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442233
  ensembl transcript: ENST00000542146
  gene symbol: EPB41L3
  hgvsc: ENST00000542146.1:c.1140T>C
  hgvsp: ENST00000542146.1:c.1140T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000392195
  ensembl transcript: ENST00000427684
  gene symbol: EPB41L3
  hgvsc: ENST00000427684.2:c.1116T>C
  hgvsp: ENST00000427684.2:c.1116T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.3225T>C
  hgvsp: ENST00000342933.3:c.3225T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.3225T>C
  hgvsp: ENST00000341928.2:c.3225T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.2769T>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578618
  gene symbol: EPB41L3
  hgvsc: ENST00000578618.1:n.2572T>C
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2876
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2926
  bin: 8.25e1
  variant carriers: 0
hgvs: p.His1075His
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

18-5394724-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5394724
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5394724
    reference: chr 18
allele count: 2
allele frequency: 1.647772211969417e-5
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442233
  ensembl transcript: ENST00000542146
  gene symbol: EPB41L3
  hgvsc: ENST00000542146.1:c.1137C>G
  hgvsp: ENST00000542146.1:c.1137C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.2646+342C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000392195
  ensembl transcript: ENST00000427684
  gene symbol: EPB41L3
  hgvsc: ENST00000427684.2:c.1113C>G
  hgvsp: ENST00000427684.2:c.1113C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578618
  gene symbol: EPB41L3
  hgvsc: ENST00000578618.1:n.2569C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.2766C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.2556C>G
  hgvsp: ENST00000400111.3:c.2556C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.3222C>G
  hgvsp: ENST00000341928.2:c.3222C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.3222C>G
  hgvsp: ENST00000342933.3:c.3222C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.2556C>G
  hgvsp: ENST00000540638.2:c.2556C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000542652
  gene symbol: EPB41L3
  hgvsc: ENST00000542652.2:n.2120C>G
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val1074Val
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

18-5394729-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5394729
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5394729
    reference: chr 18
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.2551G>C
  hgvsp: ENSP00000382981.3:p.Val851Leu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.2761G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.2646+337G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.3217G>C
  hgvsp: ENSP00000341138.3:p.Val1073Leu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578618
  gene symbol: EPB41L3
  hgvsc: ENST00000578618.1:n.2564G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000542652
  gene symbol: EPB41L3
  hgvsc: ENST00000542652.2:n.2115G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.2551G>C
  hgvsp: ENSP00000442091.2:p.Val851Leu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000392195
  ensembl transcript: ENST00000427684
  gene symbol: EPB41L3
  hgvsc: ENST00000427684.2:c.1108G>C
  hgvsp: ENSP00000392195.2:p.Val370Leu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442233
  ensembl transcript: ENST00000542146
  gene symbol: EPB41L3
  hgvsc: ENST00000542146.1:c.1132G>C
  hgvsp: ENSP00000442233.1:p.Val378Leu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.3217G>C
  hgvsp: ENSP00000343158.2:p.Val1073Leu
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val1073Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

18-5394729-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5394729
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5394729
    reference: chr 18
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.2551G>A
  hgvsp: ENSP00000442091.2:p.Val851Met
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442233
  ensembl transcript: ENST00000542146
  gene symbol: EPB41L3
  hgvsc: ENST00000542146.1:c.1132G>A
  hgvsp: ENSP00000442233.1:p.Val378Met
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.3217G>A
  hgvsp: ENSP00000343158.2:p.Val1073Met
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.3217G>A
  hgvsp: ENSP00000341138.3:p.Val1073Met
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.2761G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000392195
  ensembl transcript: ENST00000427684
  gene symbol: EPB41L3
  hgvsc: ENST00000427684.2:c.1108G>A
  hgvsp: ENSP00000392195.2:p.Val370Met
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000542652
  gene symbol: EPB41L3
  hgvsc: ENST00000542652.2:n.2115G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.2646+337G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.2551G>A
  hgvsp: ENSP00000382981.3:p.Val851Met
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578618
  gene symbol: EPB41L3
  hgvsc: ENST00000578618.1:n.2564G>A
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val1073Met
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/18-5394732-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5394732
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5394732
    reference: chr 18
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.2646+334G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578618
  gene symbol: EPB41L3
  hgvsc: ENST00000578618.1:n.2561G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.2758G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.3214G>T
  hgvsp: ENSP00000343158.2:p.Val1072Leu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.3214G>T
  hgvsp: ENSP00000341138.3:p.Val1072Leu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442233
  ensembl transcript: ENST00000542146
  gene symbol: EPB41L3
  hgvsc: ENST00000542146.1:c.1129G>T
  hgvsp: ENSP00000442233.1:p.Val377Leu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.2548G>T
  hgvsp: ENSP00000382981.3:p.Val850Leu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000542652
  gene symbol: EPB41L3
  hgvsc: ENST00000542652.2:n.2112G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000392195
  ensembl transcript: ENST00000427684
  gene symbol: EPB41L3
  hgvsc: ENST00000427684.2:c.1105G>T
  hgvsp: ENSP00000392195.2:p.Val369Leu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.2548G>T
  hgvsp: ENSP00000442091.2:p.Val850Leu
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14809
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Val1072Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

18-5394751-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5394751
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5394752
    reference: chr 18
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: AG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.3194dupC
  hgvsp: ENSP00000341138.3:p.Asp1066Ter
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578618
  gene symbol: EPB41L3
  hgvsc: ENST00000578618.1:n.2541dupC
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.2738dupC
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000542652
  gene symbol: EPB41L3
  hgvsc: ENST00000542652.2:n.2092dupC
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.2646+314dupC
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442233
  ensembl transcript: ENST00000542146
  gene symbol: EPB41L3
  hgvsc: ENST00000542146.1:c.1109dupC
  hgvsp: ENSP00000442233.1:p.Asp371Ter
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.2528dupC
  hgvsp: ENSP00000442091.2:p.Asp844Ter
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.2528dupC
  hgvsp: ENSP00000382981.3:p.Asp844Ter
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000392195
  ensembl transcript: ENST00000427684
  gene symbol: EPB41L3
  hgvsc: ENST00000427684.2:c.1085dupC
  hgvsp: ENSP00000392195.2:p.Asp363Ter
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.3194dupC
  hgvsp: ENSP00000343158.2:p.Asp1066Ter
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12832
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp1066Ter
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: A
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

18-5394768-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5394768
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5394768
    reference: chr 18
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578618
  gene symbol: EPB41L3
  hgvsc: ENST00000578618.1:n.2525G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000392195
  ensembl transcript: ENST00000427684
  gene symbol: EPB41L3
  hgvsc: ENST00000427684.2:c.1069G>A
  hgvsp: ENSP00000392195.2:p.Ala357Thr
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000542652
  gene symbol: EPB41L3
  hgvsc: ENST00000542652.2:n.2076G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.3178G>A
  hgvsp: ENSP00000341138.3:p.Ala1060Thr
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442233
  ensembl transcript: ENST00000542146
  gene symbol: EPB41L3
  hgvsc: ENST00000542146.1:c.1093G>A
  hgvsp: ENSP00000442233.1:p.Ala365Thr
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.2512G>A
  hgvsp: ENSP00000442091.2:p.Ala838Thr
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.3178G>A
  hgvsp: ENSP00000343158.2:p.Ala1060Thr
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.2512G>A
  hgvsp: ENSP00000382981.3:p.Ala838Thr
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.2722G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.2646+298G>A
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12779
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14807
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala1060Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

18-5394782-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5394782
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5394782
    reference: chr 18
allele count: 11
allele frequency: 9.074709609292503e-5
allele num: 121216
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.3164A>G
  hgvsp: ENSP00000343158.2:p.Gln1055Arg
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464570
  ensembl transcript: ENST00000579951
  gene symbol: EPB41L3
  hgvsc: ENST00000579951.1:c.*263A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578618
  gene symbol: EPB41L3
  hgvsc: ENST00000578618.1:n.2511A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442233
  ensembl transcript: ENST00000542146
  gene symbol: EPB41L3
  hgvsc: ENST00000542146.1:c.1079A>G
  hgvsp: ENSP00000442233.1:p.Gln360Arg
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000392195
  ensembl transcript: ENST00000427684
  gene symbol: EPB41L3
  hgvsc: ENST00000427684.2:c.1055A>G
  hgvsp: ENSP00000392195.2:p.Gln352Arg
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000542652
  gene symbol: EPB41L3
  hgvsc: ENST00000542652.2:n.2062A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.2498A>G
  hgvsp: ENSP00000382981.3:p.Gln833Arg
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.3164A>G
  hgvsp: ENSP00000341138.3:p.Gln1055Arg
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.2498A>G
  hgvsp: ENSP00000442091.2:p.Gln833Arg
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.2708A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.2646+284A>G
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5343
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln1055Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum

18-5394789-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5394789
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5394789
    reference: chr 18
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: ENSG00000082397
  ensembl transcript: ENST00000578618
  gene symbol: EPB41L3
  hgvsc: ENST00000578618.1:n.2504C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.2491C>T
  hgvsp: ENST00000400111.3:c.2491C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000542652
  gene symbol: EPB41L3
  hgvsc: ENST00000542652.2:n.2055C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000392195
  ensembl transcript: ENST00000427684
  gene symbol: EPB41L3
  hgvsc: ENST00000427684.2:c.1048C>T
  hgvsp: ENST00000427684.2:c.1048C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464570
  ensembl transcript: ENST00000579951
  gene symbol: EPB41L3
  hgvsc: ENST00000579951.1:c.*256C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442233
  ensembl transcript: ENST00000542146
  gene symbol: EPB41L3
  hgvsc: ENST00000542146.1:c.1072C>T
  hgvsp: ENST00000542146.1:c.1072C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.3157C>T
  hgvsp: ENST00000341928.2:c.3157C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.3157C>T
  hgvsp: ENST00000342933.3:c.3157C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.2701C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.2646+277C>T
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: synonymous
filter: PASS
hgvs: p.Leu1053Leu
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 24812
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2810
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3310
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 17554
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13642
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 2.226179875333927e-4
allele num: 8984
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7852
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.933357155619081e-5
allele num: 11194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61176
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.423977e6

VQSLOD
type: SiteQuality
SIO_000300: 5.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.289e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.954e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.83e-1

GenotypeQuality
all individuals: 757
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15633
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3667
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3051
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.75e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7816
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13436
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.11731843575419e-4
allele num: 8950
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11166
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60836
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.75e-1

DP
type: SiteQuality
SIO_000300: 1.402534e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.318e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 8.99e0

VQSLOD
type: SiteQuality
SIO_000300: -4.304e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.1e-3

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1149
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3574
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5680
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6062
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7902
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 618
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.300119606219524e-5
allele num: 43476
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8854
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-2

DP
type: SiteQuality
SIO_000300: 1.168898e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.244e0

VQSLOD
type: SiteQuality
SIO_000300: 9.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.2e-1

MQ
type: SiteQuality
SIO_000300: 5.646e1

QD
type: SiteQuality
SIO_000300: 1.901e1

GenotypeQuality
all individuals: 3628
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 53
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4012
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2172
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42076
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6164
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8686
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5790
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7556
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.87e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.41e-2

FS
type: SiteQuality
SIO_000300: 1.949e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.14e-1

DP
type: SiteQuality
SIO_000300: 1.162126e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.71e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.1e-3

QD
type: SiteQuality
SIO_000300: 1.691e1

GenotypeQuality
all individuals: 253
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 49
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4513
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3728
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.173913043478261e-4
allele num: 4600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4214
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28344
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6656
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4732
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 426
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.699e0

MQRankSum
type: SiteQuality
SIO_000300: -5.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.364e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.42e-2

QD
type: SiteQuality
SIO_000300: 9.6e-1

DP
type: SiteQuality
SIO_000300: 1.108976e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.79e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: 2.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.53e-1

GenotypeQuality
all individuals: 6647
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 242
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5823
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 253
bin: 9.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3768
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5760
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24242
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.246753246753247e-4
allele num: 3080
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4060
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 358
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.4e-2

QD
type: SiteQuality
SIO_000300: 1.1e0

MQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

DP
type: SiteQuality
SIO_000300: 1.097881e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.398e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1729
bin: 5.75e1
variant carriers: 75

GenotypeQuality
all individuals: 1161
bin: 4.25e1
variant carriers: 83

GenotypeQuality
all individuals: 1556
bin: 5.25e1
variant carriers: 91

GenotypeQuality
all individuals: 737
bin: 9.25e1
variant carriers: 12

GenotypeQuality
all individuals: 2011
bin: 3.25e1
variant carriers: 87

GenotypeQuality
all individuals: 1383
bin: 4.75e1
variant carriers: 101

GenotypeQuality
all individuals: 3028
bin: 1.25e1
variant carriers: 41

GenotypeQuality
all individuals: 936
bin: 6.75e1
variant carriers: 38

GenotypeQuality
all individuals: 1098
bin: 7.25e1
variant carriers: 27

Latino
type: Population
allele count: 94
allele frequency: 2.195235871088276e-2
allele num: 4282
num of homozygotes: 0

Other
type: Population
allele count: 7
allele frequency: 1.758793969849246e-2
allele num: 398
num of homozygotes: 0

East Asian
type: Population
allele count: 72
allele frequency: 4.342581423401689e-2
allele num: 1658
num of homozygotes: 0

African
type: Population
allele count: 42
allele frequency: 1.022395326192795e-2
allele num: 4108
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 25
allele frequency: 6.596306068601583e-3
allele num: 3790
num of homozygotes: 0

South Asian
type: Population
allele count: 75
allele frequency: 1.560549313358302e-2
allele num: 4806
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 338
allele frequency: 1.274702066676723e-2
allele num: 26516
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.57e-1

QD
type: SiteQuality
SIO_000300: 1.201e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

DP
type: SiteQuality
SIO_000300: 8.05349e5

ClippingRankSum
type: SiteQuality
SIO_000300: -7.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.66e-2

GenotypeQuality
all individuals: 936
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18256
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 1603
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1729
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2471
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8683
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1098
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1333
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1044
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.131392366872832e-4
allele num: 26516
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.512562814070352e-3
allele num: 398
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.335357309668379e-4
allele num: 4282
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 1.20627261761158e-3
allele num: 1658
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4806
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.43427458617332e-4
allele num: 4108
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3790
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

QD
type: SiteQuality
SIO_000300: 1.201e1

VQSLOD
type: SiteQuality
SIO_000300: 5.09e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.66e-2

DP
type: SiteQuality
SIO_000300: 8.05349e5

BaseQRankSum
type: SiteQuality
SIO_000300: 6.57e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.42e-1

GenotypeQuality
all individuals: 737
bin: 9.25e1
variant carriers: 688

GenotypeQuality
all individuals: 1098
bin: 7.25e1
variant carriers: 1050

GenotypeQuality
all individuals: 1044
bin: 8.25e1
variant carriers: 995

GenotypeQuality
all individuals: 1161
bin: 4.25e1
variant carriers: 1018

GenotypeQuality
all individuals: 936
bin: 6.75e1
variant carriers: 852

GenotypeQuality
all individuals: 1333
bin: 6.25e1
variant carriers: 1200

GenotypeQuality
all individuals: 1556
bin: 5.25e1
variant carriers: 1402

GenotypeQuality
all individuals: 1383
bin: 4.75e1
variant carriers: 1201

GenotypeQuality
all individuals: 688
bin: 8.75e1
variant carriers: 651

European (Finnish)
type: Population
allele count: 1966
allele frequency: 5.187335092348285e-1
allele num: 3790
num of homozygotes: 312

African
type: Population
allele count: 2300
allele frequency: 5.598831548198637e-1
allele num: 4108
num of homozygotes: 392

South Asian
type: Population
allele count: 2350
allele frequency: 4.889721181856013e-1
allele num: 4806
num of homozygotes: 235

Latino
type: Population
allele count: 1902
allele frequency: 4.441849602989257e-1
allele num: 4282
num of homozygotes: 93

Other
type: Population
allele count: 205
allele frequency: 5.150753768844221e-1
allele num: 398
num of homozygotes: 29

European (Non-Finnish)
type: Population
allele count: 13342
allele frequency: 5.03167898627244e-1
allele num: 26516
num of homozygotes: 1533

East Asian
type: Population
allele count: 450
allele frequency: 2.714113389626056e-1
allele num: 1658
num of homozygotes: 3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.66e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.09e0

MQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

DP
type: SiteQuality
SIO_000300: 8.05349e5

ClippingRankSum
type: SiteQuality
SIO_000300: -7.42e-1

QD
type: SiteQuality
SIO_000300: 1.201e1

GenotypeQuality
all individuals: 688
bin: 8.75e1
variant carriers: 50

GenotypeQuality
all individuals: 1802
bin: 2.75e1
variant carriers: 80

GenotypeQuality
all individuals: 1098
bin: 7.25e1
variant carriers: 61

GenotypeQuality
all individuals: 18256
bin: 2.5e0
variant carriers: 48

GenotypeQuality
all individuals: 1383
bin: 4.75e1
variant carriers: 94

GenotypeQuality
all individuals: 1314
bin: 7.75e1
variant carriers: 44

GenotypeQuality
all individuals: 936
bin: 6.75e1
variant carriers: 45

GenotypeQuality
all individuals: 1044
bin: 8.25e1
variant carriers: 53

GenotypeQuality
all individuals: 737
bin: 9.25e1
variant carriers: 59

African
type: Population
allele count: 120
allele frequency: 2.921129503407984e-2
allele num: 4108
num of homozygotes: 0

East Asian
type: Population
allele count: 9
allele frequency: 5.428226779252111e-3
allele num: 1658
num of homozygotes: 0

South Asian
type: Population
allele count: 289
allele frequency: 6.013316687473991e-2
allele num: 4806
num of homozygotes: 6

European (Finnish)
type: Population
allele count: 18
allele frequency: 4.74934036939314e-3
allele num: 3790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 592
allele frequency: 2.232614270629054e-2
allele num: 26516
num of homozygotes: 1

Other
type: Population
allele count: 11
allele frequency: 2.763819095477387e-2
allele num: 398
num of homozygotes: 0

Latino
type: Population
allele count: 97
allele frequency: 2.265296590378328e-2
allele num: 4282
num of homozygotes: 1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.66e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.09e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.05349e5

QD
type: SiteQuality
SIO_000300: 1.201e1

MQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.57e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1658
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.771307889576105e-5
allele num: 26516
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 4.161464835622139e-4
allele num: 4806
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.05349e5

BaseQRankSum
type: SiteQuality
SIO_000300: 6.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.66e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.09e0

QD
type: SiteQuality
SIO_000300: 1.201e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

South Asian
type: Population
allele count: 1
allele frequency: 2.08073241781107e-4
allele num: 4806
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.43427458617332e-4
allele num: 4108
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.638522427440633e-4
allele num: 3790
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.57e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.05349e5

QD
type: SiteQuality
SIO_000300: 1.201e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.66e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

GenotypeQuality
all individuals: 4
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 713
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.531678641410843e-4
allele num: 3062
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1242
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1022
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 308
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.7e-2

FS
type: SiteQuality
SIO_000300: 4.978e0

DP
type: SiteQuality
SIO_000300: 3.36803e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.883e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 5.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.659999999999999e-1

GenotypeQuality
all individuals: 5958
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 446
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 21
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1714
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1138
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 106
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2190
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.602305475504323e-4
allele num: 5552
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

MQRankSum
type: SiteQuality
SIO_000300: -3.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.117e-1

DP
type: SiteQuality
SIO_000300: 9.37041e5

MQ
type: SiteQuality
SIO_000300: 6.06e1

FS
type: SiteQuality
SIO_000300: 1.627e1

VQSLOD
type: SiteQuality
SIO_000300: 4.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

QD
type: SiteQuality
SIO_000300: 6.96e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.63e-1

GenotypeQuality
all individuals: 442
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1342
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 68
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 9.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 332
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4224
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20790
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1854
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3468
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e0

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

DP
type: SiteQuality
SIO_000300: 4.67613e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.84e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.432e0

MQ
type: SiteQuality
SIO_000300: 5.728e1

GenotypeQuality
all individuals: 53
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19325
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 123
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1752
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2828
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.128911138923655e-4
allele num: 3196
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.921352632253106e-4
allele num: 15614
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3274
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1062
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.674e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.00991e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.48e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

QD
type: SiteQuality
SIO_000300: 1.579e1

GenotypeQuality
all individuals: 45
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2644
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2586
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2708
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2956
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13602
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2244
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.549e0

DP
type: SiteQuality
SIO_000300: 3.79496e5

FS
type: SiteQuality
SIO_000300: 3.724e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.82e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e0

QD
type: SiteQuality
SIO_000300: 6.96e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 26
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 23751
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 666
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 7.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 660
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 1.881467544684854e-3
allele num: 2126
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2288
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2606
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1940
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.017e0

VQSLOD
type: SiteQuality
SIO_000300: -8.69e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.95e-1

MQ
type: SiteQuality
SIO_000300: 6.107e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.15e-2

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.59044e5

QD
type: SiteQuality
SIO_000300: 9.130000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.22e-1

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 27
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 8.989572096368213e-5
allele num: 11124
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2216
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2038
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1868
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 3.98406374501992e-4
allele num: 2510
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.21e-1

DP
type: SiteQuality
SIO_000300: 3.53626e5

VQSLOD
type: SiteQuality
SIO_000300: 4.06e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.15e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

QD
type: SiteQuality
SIO_000300: 1.302e1

GenotypeQuality
all individuals: 9228
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1510
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8754
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 166
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2042
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1826
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1500
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1462
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 446
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.511e0

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

QD
type: SiteQuality
SIO_000300: 9.66e0

DP
type: SiteQuality
SIO_000300: 3.3401e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

GenotypeQuality
all individuals: 5821
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 23169
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1974
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5323
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1721
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1909
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.710019782083085e-5
allele num: 63694
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9886
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15716
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.690943e6

QD
type: SiteQuality
SIO_000300: 1.322e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.07e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.06e-1

GenotypeQuality
all individuals: 696
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3283
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24171
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 920
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5830
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 1991
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11242
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9882
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 7.012622720897616e-4
allele num: 15686
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63712
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.24e-1

QD
type: SiteQuality
SIO_000300: 1.22e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

MQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

FS
type: SiteQuality
SIO_000300: 2.937e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.34e-1

DP
type: SiteQuality
SIO_000300: 1.70145e6

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

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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variant carriers: 1

GenotypeQuality
all individuals: 794
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variant carriers: 0

GenotypeQuality
all individuals: 5547
bin: 6.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.566121656330264e-5
allele num: 63852
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15750
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.99e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.403e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.65e-1

DP
type: SiteQuality
SIO_000300: 1.729467e6

FS
type: SiteQuality
SIO_000300: 5.798e0

QD
type: SiteQuality
SIO_000300: 1.518e1

MQ
type: SiteQuality
SIO_000300: 5.906e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e-2

GenotypeQuality
all individuals: 705
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5563
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2631
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.009693053311793e-4
allele num: 9904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63834
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15766
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.464e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

DP
type: SiteQuality
SIO_000300: 1.738164e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.366e0

GenotypeQuality
all individuals: 5750
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1959
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variant carriers: 0

GenotypeQuality
all individuals: 1156
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.314725940894166e-5
allele num: 15836
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11280
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9934
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64126
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.475e1

VQSLOD
type: SiteQuality
SIO_000300: 9.59e-1

DP
type: SiteQuality
SIO_000300: 1.761558e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.172e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.24e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

FS
type: SiteQuality
SIO_000300: 4.223e0

GenotypeQuality
all individuals: 2133
bin: 7.25e1
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
all individuals: 466
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GenotypeQuality
all individuals: 932
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.674207721791156e-5
allele num: 64182
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9936
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11282
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15848
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.76791e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e0

QD
type: SiteQuality
SIO_000300: 1.399e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e0

GenotypeQuality
all individuals: 1020
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variant carriers: 0

GenotypeQuality
all individuals: 10
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GenotypeQuality
all individuals: 32578
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GenotypeQuality
all individuals: 932
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variant carriers: 0

GenotypeQuality
all individuals: 710
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variant carriers: 0

GenotypeQuality
all individuals: 350
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GenotypeQuality
all individuals: 421
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64264
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11298
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.005227181342983e-4
allele num: 9948
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15862
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.629e0

MQRankSum
type: SiteQuality
SIO_000300: 3.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.485e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

QD
type: SiteQuality
SIO_000300: 1.264e1

DP
type: SiteQuality
SIO_000300: 1.774484e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.67e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 711
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 506
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GenotypeQuality
all individuals: 1802
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variant carriers: 0

GenotypeQuality
all individuals: 2165
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9962
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.554388037429664e-5
allele num: 64334
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15876
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11310
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
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: 1.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

FS
type: SiteQuality
SIO_000300: 1.352e0

VQSLOD
type: SiteQuality
SIO_000300: 3.33e-1

DP
type: SiteQuality
SIO_000300: 1.782029e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.075e0

MQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.529999999999999e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 812
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GenotypeQuality
all individuals: 5830
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11330
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9976
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.549042691616581e-5
allele num: 64556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15942
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

VQSLOD
type: SiteQuality
SIO_000300: 2.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 1.184e1

DP
type: SiteQuality
SIO_000300: 1.793287e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.68e0

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)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64602
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.76522506619594e-4
allele num: 11330
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15952
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9994
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.796589e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 2.93e-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
all individuals: 936
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GenotypeQuality
all individuals: 716
bin: 8.75e1
variant carriers: 0

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

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

African
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allele frequency: 0.0e0
allele num: 10040
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East Asian
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South Asian
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allele frequency: 6.252344629235963e-5
allele num: 15994
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64818
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e0

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -3.027e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.71e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2176
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GenotypeQuality
all individuals: 5839
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variant carriers: 11

GenotypeQuality
all individuals: 2734
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GenotypeQuality
all individuals: 1295
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variant carriers: 0

South Asian
type: Population
allele count: 8
allele frequency: 5.002501250625312e-4
allele num: 15992
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10036
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.6250616674889e-5
allele num: 64864
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11366
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.901e1

FS
type: SiteQuality
SIO_000300: 1.147e0

MQRankSum
type: SiteQuality
SIO_000300: -3.94e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.800459e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.46e0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2738
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 713
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5937
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1502
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 932
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11368
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10038
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64882
num of homozygotes: 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: 6562
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.25203455615375e-4
allele num: 15974
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.794688e6

QD
type: SiteQuality
SIO_000300: 5.98e0

MQRankSum
type: SiteQuality
SIO_000300: 4.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.463e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.39e-1

GenotypeQuality
all individuals: 50
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2159
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5842
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 31129
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1779
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1826
bin: 3.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.166861143523921e-4
allele num: 8570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10030
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.312245652978172e-4
allele num: 64872
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11362
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15994
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.46e0

FS
type: SiteQuality
SIO_000300: 1.769e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-2

QD
type: SiteQuality
SIO_000300: 1.139e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.115e0

MQRankSum
type: SiteQuality
SIO_000300: 1.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.42e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

DP
type: SiteQuality
SIO_000300: 1.786446e6

GenotypeQuality
all individuals: 26587
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5646
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1769
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1318
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2668
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2111
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10024
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15996
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.717002099024571e-5
allele num: 64792
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.13e-1

FS
type: SiteQuality
SIO_000300: 5.585e0

QD
type: SiteQuality
SIO_000300: 1.329e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.3e-1

DP
type: SiteQuality
SIO_000300: 1.758076e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.4e-1

GenotypeQuality
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3097
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1768
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1469
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2651
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 706
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5824
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15954
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.169043722235212e-4
allele num: 8554
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64746
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10022
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.225e0

DP
type: SiteQuality
SIO_000300: 1.75643e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.727e0

FS
type: SiteQuality
SIO_000300: 1.155e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.58e-1

GenotypeQuality
all individuals: 5444
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1753
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3532
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3002
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2268
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2063
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11318
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15916
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.988014382740711e-5
allele num: 10012
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64568
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.724e0

VQSLOD
type: SiteQuality
SIO_000300: -3.303e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.35e-1

QD
type: SiteQuality
SIO_000300: 7.61e0

DP
type: SiteQuality
SIO_000300: 1.749992e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.905e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2077
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21288
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2249
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3209
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 708
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variant carriers: 0

GenotypeQuality
all individuals: 5414
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 924
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.994415636218588e-4
allele num: 10028
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15960
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64768
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.967e0

FS
type: SiteQuality
SIO_000300: 4.387e0

DP
type: SiteQuality
SIO_000300: 1.737981e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e0

VQSLOD
type: SiteQuality
SIO_000300: -8.658e-1

MQ
type: SiteQuality
SIO_000300: 5.809e1

QD
type: SiteQuality
SIO_000300: 1.438e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.022e0

GenotypeQuality
all individuals: 1749
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5825
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 709
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2620
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18604
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variant carriers: 0

GenotypeQuality
all individuals: 5356
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 7.5e0
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64648
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.271951831409934e-5
allele num: 15944
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10024
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11342
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.085e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.79e-1

DP
type: SiteQuality
SIO_000300: 1.735478e6

VQSLOD
type: SiteQuality
SIO_000300: 2.1e0

QD
type: SiteQuality
SIO_000300: 1.393e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.79e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 148
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1299
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variant carriers: 0

GenotypeQuality
all individuals: 35
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variant carriers: 0

GenotypeQuality
all individuals: 1949
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variant carriers: 0

GenotypeQuality
all individuals: 506
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variant carriers: 3

GenotypeQuality
all individuals: 80
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GenotypeQuality
all individuals: 979
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variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.644103648863035e-4
allele num: 7564
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3570
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 5.050505050505051e-3
allele num: 198
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.802e0

DP
type: SiteQuality
SIO_000300: 1.82702e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.52e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.97e-1

QD
type: SiteQuality
SIO_000300: 1.244e1

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 450
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variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2504
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variant carriers: 0

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 1304
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 359
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variant carriers: 0

GenotypeQuality
all individuals: 565
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variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.322751322751323e-4
allele num: 7560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.802690582959641e-4
allele num: 3568
num of homozygotes: 0

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -8.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.488e0

FS
type: SiteQuality
SIO_000300: 4.999e0

VQSLOD
type: SiteQuality
SIO_000300: 2.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.92e-1

DP
type: SiteQuality
SIO_000300: 1.85107e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.16e-2

QD
type: SiteQuality
SIO_000300: 1.348e1

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2606
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 450
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variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 255
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variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 497
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GenotypeQuality
all individuals: 11
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GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1047
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 7.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.802690582959641e-4
allele num: 3568
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.8571e5

ClippingRankSum
type: SiteQuality
SIO_000300: -9.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.502e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.899e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.95e-1

GenotypeQuality
all individuals: 29
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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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: 5.621135469364812e-4
allele num: 3558
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 7580
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Other
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allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

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

East Asian
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allele count: 0
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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ReadPosRankSum
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SIO_000300: 1.27e0

VQSLOD
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MQRankSum
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FS
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DP
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QD
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InbreedingCoeff
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ClippingRankSum
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SIO_000300: -3.06e-1

BaseQRankSum
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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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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 frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele frequency: 1.982553528945281e-3
allele num: 7566
num of homozygotes: 0

European (Non-Finnish)
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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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InbreedingCoeff
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MQRankSum
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QD
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BaseQRankSum
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MQ
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ReadPosRankSum
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ClippingRankSum
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FS
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VQSLOD
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DP
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SIO_000300: 1.82161e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 532
num of homozygotes: 0

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

South Asian
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allele frequency: 1.324152542372881e-4
allele num: 7552
num of homozygotes: 0

European (Non-Finnish)
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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 count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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ClippingRankSum
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QD
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FS
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VQSLOD
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MQRankSum
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DP
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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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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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
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: NaN
allele num: 0
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East Asian
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Other
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num of homozygotes: 0

South Asian
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ReadPosRankSum
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QD
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MQRankSum
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VQSLOD
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FS
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BaseQRankSum
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DP
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InbreedingCoeff
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

Other
type: Population
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African
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East Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66100
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South Asian
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allele frequency: 0.0e0
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Latino
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.16e-1

FS
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BaseQRankSum
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VQSLOD
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QD
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MQRankSum
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ClippingRankSum
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DP
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InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 5.945e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6594
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South Asian
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Other
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East Asian
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.514600751241973e-5
allele num: 66024
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Latino
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
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DP
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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MQ
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FS
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QD
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MQRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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African
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South Asian
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European (Finnish)
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Latino
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East Asian
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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MQRankSum
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FS
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ClippingRankSum
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MQ
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InbreedingCoeff
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DP
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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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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 (Non-Finnish)
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Other
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African
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European (Finnish)
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East Asian
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Latino
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South Asian
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MQRankSum
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ReadPosRankSum
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VQSLOD
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FS
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ClippingRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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South Asian
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East Asian
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Other
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Latino
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European (Finnish)
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FS
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ClippingRankSum
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QD
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MQRankSum
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DP
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2935
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504936190705514e-5
allele num: 66448
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15992
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.23e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.023e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

FS
type: SiteQuality
SIO_000300: 1.881e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.313e0

VQSLOD
type: SiteQuality
SIO_000300: -2.893e0

ReadPosRankSum
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SIO_000300: 1.53e0

QD
type: SiteQuality
SIO_000300: 1.423e1

DP
type: SiteQuality
SIO_000300: 2.193054e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.669e0

GenotypeQuality
all individuals: 62
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 7.25e1
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: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504528631179851e-5
allele num: 66466
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16036
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.15e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.193519e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-2

QD
type: SiteQuality
SIO_000300: 1.686e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.38e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9.75e1
variant carriers: 6

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

East Asian
type: Population
allele count: 3
allele frequency: 3.471418653089562e-4
allele num: 8642
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: 3
allele frequency: 2.883506343713956e-4
allele num: 10404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16088
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66490
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -8.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e-1

QD
type: SiteQuality
SIO_000300: 1.503e1

VQSLOD
type: SiteQuality
SIO_000300: 5.4e0

DP
type: SiteQuality
SIO_000300: 2.195837e6

GenotypeQuality
all individuals: 76
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2210
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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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variant carriers: 0

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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variant carriers: 6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.507958435942099e-5
allele num: 66596
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: 10404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16284
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.203e0

DP
type: SiteQuality
SIO_000300: 2.201918e6

VQSLOD
type: SiteQuality
SIO_000300: 2.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.81e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.38e-1

QD
type: SiteQuality
SIO_000300: 1.258e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.79e-1

GenotypeQuality
all individuals: 3
bin: 2.5e0
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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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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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: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002462018855461e-5
allele num: 66612
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16320
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.85e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.07e-1

QD
type: SiteQuality
SIO_000300: 1.322e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.65e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 2.202952e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.21e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 13
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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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variant carriers: 0

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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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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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16372
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500915558490679e-5
allele num: 66626
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.53e-1

DP
type: SiteQuality
SIO_000300: 2.204906e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.63e-1

QD
type: SiteQuality
SIO_000300: 1.278e1

VQSLOD
type: SiteQuality
SIO_000300: 3.83e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

GenotypeQuality
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bin: 6.25e1
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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GenotypeQuality
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variant carriers: 28

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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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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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 2.701648005283223e-4
allele num: 66626
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 6.10798924993892e-4
allele num: 16372
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

BaseQRankSum
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SIO_000300: -6.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.83e0

QD
type: SiteQuality
SIO_000300: 1.278e1

FS
type: SiteQuality
SIO_000300: 6.53e-1

DP
type: SiteQuality
SIO_000300: 2.204906e6

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 4
allele frequency: 4.626416840157298e-4
allele num: 8646
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: 10404
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.349e1

ReadPosRankSum
type: SiteQuality
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FS
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

MQRankSum
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SIO_000300: 1.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.37e0

MQ
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SIO_000300: 5.979e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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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: 2835
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25179
bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
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
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allele frequency: 0.0e0
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Other
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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QD
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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FS
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MQ
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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South Asian
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Other
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European (Finnish)
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European (Non-Finnish)
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African
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InbreedingCoeff
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ClippingRankSum
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MQ
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DP
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QD
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MQRankSum
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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Latino
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African
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South Asian
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East Asian
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Other
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BaseQRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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VQSLOD
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ReadPosRankSum
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FS
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QD
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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South Asian
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Latino
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InbreedingCoeff
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MQ
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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QD
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MQRankSum
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DP
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FS
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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South Asian
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European (Non-Finnish)
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allele num: 66712
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East Asian
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Latino
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Other
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European (Finnish)
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allele num: 6614
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FS
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MQ
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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MQRankSum
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DP
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QD
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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European (Finnish)
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Other
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East Asian
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South Asian
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European (Non-Finnish)
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DP
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VQSLOD
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QD
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FS
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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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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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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European (Finnish)
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African
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South Asian
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European (Non-Finnish)
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Latino
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Other
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East Asian
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QD
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VQSLOD
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FS
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ClippingRankSum
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MQRankSum
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MQ
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InbreedingCoeff
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DP
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Latino
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South Asian
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African
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European (Finnish)
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East Asian
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InbreedingCoeff
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FS
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ReadPosRankSum
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BaseQRankSum
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QD
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ClippingRankSum
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VQSLOD
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MQ
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DP
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GenotypeQuality
all individuals: 2210
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2843
bin: 7.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.207712e6

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

FS
type: SiteQuality
SIO_000300: 8.429e0

VQSLOD
type: SiteQuality
SIO_000300: -8.907e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.046e0

MQ
type: SiteQuality
SIO_000300: 5.986e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.733e0

QD
type: SiteQuality
SIO_000300: 7.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.72e-1

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

GenotypeQuality
all individuals: 3772
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25382
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14808
bin: 9.75e1
variant carriers: 1

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

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

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

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

GenotypeQuality
all individuals: 33
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2926
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7272
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 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: 11578
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.201e1

MQ
type: SiteQuality
SIO_000300: 5.964e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e0

MQRankSum
type: SiteQuality
SIO_000300: 6.39e-1

FS
type: SiteQuality
SIO_000300: 2.935e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.63e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.45e-1

DP
type: SiteQuality
SIO_000300: 2.20763e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.238e0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2209
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2926
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
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: 16492
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.006e1

QD
type: SiteQuality
SIO_000300: 1.258e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.866e0

DP
type: SiteQuality
SIO_000300: 2.20715e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 2.115e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

MQRankSum
type: SiteQuality
SIO_000300: -4.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.051e0

VQSLOD
type: SiteQuality
SIO_000300: 7.09e-1

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3770
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14808
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 25107
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2919
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2208
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7238
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1440
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2831
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

East Asian
type: Population
allele count: 11
allele frequency: 1.271088513981974e-3
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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: 11572
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: 16424
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e-1

QD
type: SiteQuality
SIO_000300: 1.044e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.58e-2

DP
type: SiteQuality
SIO_000300: 2.205369e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.74e-1

FS
type: SiteQuality
SIO_000300: 6.74e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: 2.39e0

MQRankSum
type: SiteQuality
SIO_000300: 2.37e-1