14-91942726-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91942726
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91942726
    reference: chr 14
allele count: 1
allele frequency: 8.335000333400014e-6
allele num: 119976
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.1110+26A>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.448+26A>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.618+26A>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.393+26A>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.393+26A>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.393+26A>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.1117+26A>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.1110+26A>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.1110+26A>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.1110+26A>C
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13920
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP

14-91942730-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91942730
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91942730
    reference: chr 14
allele count: 7
allele frequency: 5.825856817084741e-5
allele num: 120154
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.618+22T>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.1110+22T>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.1110+22T>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.1117+22T>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.393+22T>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.393+22T>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.1110+22T>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.393+22T>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.448+22T>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.1110+22T>A
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2802
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.5e0
  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: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD

14-91942732-TGAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91942732
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91942729
    reference: chr 14
allele count: 3
allele frequency: 2.495092983798529e-5
allele num: 120236
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.393+17_393+19delCTC
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.1110+17_1110+19delCTC
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.1110+17_1110+19delCTC
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.448+17_448+19delCTC
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.393+17_393+19delCTC
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.393+17_393+19delCTC
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.1117+17_1117+19delCTC
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.1110+17_1110+19delCTC
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.1110+17_1110+19delCTC
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.618+17_618+19delCTC
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6075
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2804
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: TGAG
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

14-91942734-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91942734
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91942734
    reference: chr 14
allele count: 1
allele frequency: 8.310893919750009e-6
allele num: 120324
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.393+18T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.618+18T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.448+18T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.1110+18T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.393+18T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.393+18T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.1110+18T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.1110+18T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.1117+18T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.1110+18T>C
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6077
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/14-91942742-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91942742
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91942741
    reference: chr 14
allele count: 1
allele frequency: 8.294900295298451e-6
allele num: 120556
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.1110+9delT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.1110+9delT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.618+9delT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.1117+9delT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.1110+9delT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.393+9delT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.1110+9delT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.448+9delT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.393+9delT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.393+9delT
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6078
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15036
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14388
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: CA
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/14-91942745-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91942745
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91942745
    reference: chr 14
allele count: 1
allele frequency: 8.292011476143882e-6
allele num: 120598
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.618+7T>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.393+7T>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.393+7T>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.1110+7T>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.1110+7T>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.1110+7T>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.448+7T>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.1117+7T>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.1110+7T>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.393+7T>G
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14445
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 8.25e1
  variant carriers: 0
hgvs: c.1110+7T>G
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

14-91942755-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91942755
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91942755
    reference: chr 14
allele count: 1
allele frequency: 8.281299170213822e-6
allele num: 120754
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.1114C>T
  hgvsp: ENST00000554308.1:c.1114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.390C>T
  hgvsp: ENST00000555029.1:c.390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.445C>T
  hgvsp: ENST00000555470.1:c.445C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.1107C>T
  hgvsp: ENST00000337238.4:c.1107C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.1107C>T
  hgvsp: ENST00000554684.1:c.1107C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.1107C>T
  hgvsp: ENST00000554943.1:c.1107C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.615C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.390C>T
  hgvsp: ENST00000555462.1:c.390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.1107C>T
  hgvsp: ENST00000554390.1:c.1107C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.390C>T
  hgvsp: ENST00000428424.2:c.390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6083
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15042
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile369Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

14-91942760-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91942760
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91942760
    reference: chr 14
allele count: 1
allele frequency: 8.276775368316504e-6
allele num: 120820
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.1102G>C
  hgvsp: ENSP00000450864.1:p.Val368Leu
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.1102G>C
  hgvsp: ENSP00000450883.1:p.Val368Leu
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.440G>C
  hgvsp: ENSP00000451841.1:p.Val148Leu
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.1109G>C
  hgvsp: ENSP00000450473.1:p.Val371Leu
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.610G>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.1102G>C
  hgvsp: ENSP00000452596.1:p.Val368Leu
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.1102G>C
  hgvsp: ENSP00000337125.4:p.Val368Leu
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.385G>C
  hgvsp: ENSP00000450891.1:p.Val129Leu
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.385G>C
  hgvsp: ENSP00000452257.1:p.Val129Leu
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.385G>C
  hgvsp: ENSP00000392704.2:p.Val129Leu
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15043
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val368Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

14-91942778-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91942778
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91942778
    reference: chr 14
allele count: 1
allele frequency: 8.270067318347971e-6
allele num: 120918
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.1084A>G
  hgvsp: ENSP00000450864.1:p.Ile362Val
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.1084A>G
  hgvsp: ENSP00000337125.4:p.Ile362Val
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.592A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.367A>G
  hgvsp: ENSP00000392704.2:p.Ile123Val
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.367A>G
  hgvsp: ENSP00000450891.1:p.Ile123Val
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.1091A>G
  hgvsp: ENSP00000450473.1:p.Ile365Val
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.422A>G
  hgvsp: ENSP00000451841.1:p.Ile142Val
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.1084A>G
  hgvsp: ENSP00000450883.1:p.Ile362Val
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.1084A>G
  hgvsp: ENSP00000452596.1:p.Ile362Val
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.367A>G
  hgvsp: ENSP00000452257.1:p.Ile123Val
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15050
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile362Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP

14-91942779-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91942779
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91942779
    reference: chr 14
allele count: 1
allele frequency: 8.270204108637402e-6
allele num: 120916
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.1083C>T
  hgvsp: ENST00000554684.1:c.1083C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.366C>T
  hgvsp: ENST00000428424.2:c.366C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.1090C>T
  hgvsp: ENST00000554308.1:c.1090C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.1083C>T
  hgvsp: ENST00000337238.4:c.1083C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.1083C>T
  hgvsp: ENST00000554390.1:c.1083C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.421C>T
  hgvsp: ENST00000555470.1:c.421C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.366C>T
  hgvsp: ENST00000555029.1:c.366C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.1083C>T
  hgvsp: ENST00000554943.1:c.1083C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.591C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.366C>T
  hgvsp: ENST00000555462.1:c.366C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly361Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

14-91942788-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91942788
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91942788
    reference: chr 14
allele count: 2
allele frequency: 1.653794631782625e-5
allele num: 120934
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.1081A>G
  hgvsp: ENST00000554308.1:c.1081A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.1074A>G
  hgvsp: ENST00000554684.1:c.1074A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.582A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.1074A>G
  hgvsp: ENST00000554943.1:c.1074A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.357A>G
  hgvsp: ENST00000555462.1:c.357A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.357A>G
  hgvsp: ENST00000428424.2:c.357A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.1074A>G
  hgvsp: ENST00000337238.4:c.1074A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.1074A>G
  hgvsp: ENST00000554390.1:c.1074A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.412A>G
  hgvsp: ENST00000555470.1:c.412A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.357A>G
  hgvsp: ENST00000555029.1:c.357A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6080
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14444
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser358Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

14-91942791-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91942791
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91942791
    reference: chr 14
allele count: 40
allele frequency: 3.307479865716317e-4
allele num: 120938
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.1071G>A
  hgvsp: ENST00000337238.4:c.1071G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.354G>A
  hgvsp: ENST00000555462.1:c.354G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.1071G>A
  hgvsp: ENST00000554943.1:c.1071G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.1078G>A
  hgvsp: ENST00000554308.1:c.1078G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.579G>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.354G>A
  hgvsp: ENST00000555029.1:c.354G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.354G>A
  hgvsp: ENST00000428424.2:c.354G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.1071G>A
  hgvsp: ENST00000554684.1:c.1071G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.1071G>A
  hgvsp: ENST00000554390.1:c.1071G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.409G>A
  hgvsp: ENST00000555470.1:c.409G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6078
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10912
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu357Leu
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

14-91942793-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91942793
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91942793
    reference: chr 14
allele count: 1
allele frequency: 8.268562923763849e-6
allele num: 120940
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.1069T>A
  hgvsp: ENSP00000450883.1:p.Leu357Met
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.1069T>A
  hgvsp: ENSP00000337125.4:p.Leu357Met
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.577T>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.1076T>A
  hgvsp: ENSP00000450473.1:p.Leu360Met
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.1069T>A
  hgvsp: ENSP00000450864.1:p.Leu357Met
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.1069T>A
  hgvsp: ENSP00000452596.1:p.Leu357Met
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.407T>A
  hgvsp: ENSP00000451841.1:p.Leu137Met
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.352T>A
  hgvsp: ENSP00000450891.1:p.Leu118Met
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.352T>A
  hgvsp: ENSP00000392704.2:p.Leu118Met
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.352T>A
  hgvsp: ENSP00000452257.1:p.Leu118Met
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14407
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu357Met
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

14-91942800-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91942800
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91942800
    reference: chr 14
allele count: 1
allele frequency: 8.268699664290793e-6
allele num: 120938
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.1062C>G
  hgvsp: ENSP00000450883.1:p.Phe354Leu
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.345C>G
  hgvsp: ENSP00000450891.1:p.Phe115Leu
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.1069C>G
  hgvsp: ENSP00000450473.1:p.Phe357Leu
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.1062C>G
  hgvsp: ENSP00000450864.1:p.Phe354Leu
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.345C>G
  hgvsp: ENSP00000452257.1:p.Phe115Leu
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.1062C>G
  hgvsp: ENSP00000452596.1:p.Phe354Leu
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.345C>G
  hgvsp: ENSP00000392704.2:p.Phe115Leu
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.570C>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.400C>G
  hgvsp: ENSP00000451841.1:p.Phe134Leu
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.1062C>G
  hgvsp: ENSP00000337125.4:p.Phe354Leu
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6082
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Phe354Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

14-91942830-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91942830
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91942830
    reference: chr 14
allele count: 8
allele frequency: 6.625039336171058e-5
allele num: 120754
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.1032G>A
  hgvsp: ENST00000554943.1:c.1032G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.377-7G>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.315G>A
  hgvsp: ENST00000555029.1:c.315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.1039G>A
  hgvsp: ENST00000554308.1:c.1039G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.1032G>A
  hgvsp: ENST00000337238.4:c.1032G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.315G>A
  hgvsp: ENST00000428424.2:c.315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.1032G>A
  hgvsp: ENST00000554684.1:c.1032G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.315G>A
  hgvsp: ENST00000555462.1:c.315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.1032G>A
  hgvsp: ENST00000554390.1:c.1032G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.540G>A
  variant of: http://identifiers.org/hgnc/20219
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6078
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
hgvs: c.377-7G>A
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD

14-91942842-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91942842
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91942842
    reference: chr 14
allele count: 8
allele frequency: 6.642311524410495e-5
allele num: 120440
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.303G>A
  hgvsp: ENST00000428424.2:c.303G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.528G>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.1020G>A
  hgvsp: ENST00000554390.1:c.1020G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.1020G>A
  hgvsp: ENST00000554684.1:c.1020G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.1020G>A
  hgvsp: ENST00000554943.1:c.1020G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.303G>A
  hgvsp: ENST00000555462.1:c.303G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.1027G>A
  hgvsp: ENST00000554308.1:c.1027G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.1020G>A
  hgvsp: ENST00000337238.4:c.1020G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.377-19G>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.303G>A
  hgvsp: ENST00000555029.1:c.303G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15072
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala340Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum

14-91942843-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91942843
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91942843
    reference: chr 14
allele count: 2
allele frequency: 1.66143315223712e-5
allele num: 120378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.1019C>T
  hgvsp: ENSP00000337125.4:p.Ala340Val
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.1019C>T
  hgvsp: ENSP00000450864.1:p.Ala340Val
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.302C>T
  hgvsp: ENSP00000452257.1:p.Ala101Val
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.1019C>T
  hgvsp: ENSP00000452596.1:p.Ala340Val
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.302C>T
  hgvsp: ENSP00000450891.1:p.Ala101Val
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.377-20C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.527C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.1019C>T
  hgvsp: ENSP00000450883.1:p.Ala340Val
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.1026C>T
  hgvsp: ENSP00000450473.1:p.Ala343Val
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.302C>T
  hgvsp: ENSP00000392704.2:p.Ala101Val
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6089
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13824
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15085
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala340Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: G
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/14-91942846-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91942846
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91942846
    reference: chr 14
allele count: 1
allele frequency: 8.312137383006666e-6
allele num: 120306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.1016G>T
  hgvsp: ENSP00000337125.4:p.Cys339Phe
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.377-23G>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.1016G>T
  hgvsp: ENSP00000450864.1:p.Cys339Phe
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.299G>T
  hgvsp: ENSP00000450891.1:p.Cys100Phe
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.299G>T
  hgvsp: ENSP00000452257.1:p.Cys100Phe
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.524G>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.1016G>T
  hgvsp: ENSP00000452596.1:p.Cys339Phe
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.1016G>T
  hgvsp: ENSP00000450883.1:p.Cys339Phe
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.299G>T
  hgvsp: ENSP00000392704.2:p.Cys100Phe
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.1023G>T
  hgvsp: ENSP00000450473.1:p.Cys342Phe
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6080
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15082
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21054
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Cys339Phe
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

14-91942850-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91942850
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91942850
    reference: chr 14
allele count: 1
allele frequency: 8.324869715788949e-6
allele num: 120122
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.520T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.1012T>C
  hgvsp: ENSP00000452596.1:p.Phe338Leu
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.295T>C
  hgvsp: ENSP00000450891.1:p.Phe99Leu
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.1012T>C
  hgvsp: ENSP00000450864.1:p.Phe338Leu
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.377-27T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.1019T>C
  hgvsp: ENSP00000450473.1:p.Phe341Leu
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.1012T>C
  hgvsp: ENSP00000450883.1:p.Phe338Leu
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.295T>C
  hgvsp: ENSP00000452257.1:p.Phe99Leu
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.295T>C
  hgvsp: ENSP00000392704.2:p.Phe99Leu
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.1012T>C
  hgvsp: ENSP00000337125.4:p.Phe338Leu
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6075
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40013
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Phe338Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

14-91942851-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91942851
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91942851
    reference: chr 14
allele count: 1
allele frequency: 8.325008325008325e-6
allele num: 120120
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.1011A>G
  hgvsp: ENST00000554390.1:c.1011A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.1011A>G
  hgvsp: ENST00000337238.4:c.1011A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.377-28A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.294A>G
  hgvsp: ENST00000555462.1:c.294A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.1011A>G
  hgvsp: ENST00000554943.1:c.1011A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.1011A>G
  hgvsp: ENST00000554684.1:c.1011A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.294A>G
  hgvsp: ENST00000555029.1:c.294A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.294A>G
  hgvsp: ENST00000428424.2:c.294A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.519A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.1018A>G
  hgvsp: ENST00000554308.1:c.1018A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6074
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu337Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum

14-91942868-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91942868
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91942868
    reference: chr 14
allele count: 1
allele frequency: 8.398421096833796e-6
allele num: 119070
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.277G>A
  hgvsp: ENSP00000392704.2:p.Val93Ile
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.994G>A
  hgvsp: ENSP00000450864.1:p.Val332Ile
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.1001G>A
  hgvsp: ENSP00000450473.1:p.Val335Ile
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.994G>A
  hgvsp: ENSP00000337125.4:p.Val332Ile
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.277G>A
  hgvsp: ENSP00000450891.1:p.Val93Ile
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.994G>A
  hgvsp: ENSP00000450883.1:p.Val332Ile
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.502G>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.994G>A
  hgvsp: ENSP00000452596.1:p.Val332Ile
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.277G>A
  hgvsp: ENSP00000452257.1:p.Val93Ile
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.377-45G>A
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20499
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6075
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val332Ile
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

14-91942886-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91942886
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91942886
    reference: chr 14
allele count: 18
allele frequency: 1.549720189410245e-4
allele num: 116150
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.277-18C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.994-18C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.994-18C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.377-63C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.277-18C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.994-18C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.502-18C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.1001-18C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.994-18C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.277-18C>T
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6104
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15255
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13086
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5748
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8599
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2591
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP

14-91942892-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91942892
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91942892
    reference: chr 14
allele count: 1
allele frequency: 8.779785422044285e-6
allele num: 113898
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.277-24A>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.277-24A>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.377-69A>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.994-24A>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.994-24A>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.1001-24A>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.994-24A>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.502-24A>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.994-24A>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.277-24A>C
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7865
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4851
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12802
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12513
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21205
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

14-91942895-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91942895
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91942895
    reference: chr 14
allele count: 3
allele frequency: 2.698812522490104e-5
allele num: 111160
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.994-27A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.994-27A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.277-27A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.1001-27A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.377-72A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.502-27A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.277-27A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.994-27A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.994-27A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.277-27A>G
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9407
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13799
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9284
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10789
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17371
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

14-91942897-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91942897
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91942896
    reference: chr 14
allele count: 1
allele frequency: 9.19777046044039e-6
allele num: 108722
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.994-30delT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.277-30delT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.994-30delT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.502-30delT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.377-75delT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.1001-30delT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.277-30delT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.277-30delT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.994-30delT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.994-30delT
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9935
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8572
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3810
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4141
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3334
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17605
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: TA
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

14-91942904-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91942904
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91942904
    reference: chr 14
allele count: 2
allele frequency: 2.365520177887117e-5
allele num: 84548
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.277-36A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.994-36A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.994-36A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.1001-36A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.994-36A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.277-36A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.994-36A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.502-36A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.377-81A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.277-36A>G
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13745
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8897
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5818
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14816
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4662
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum

14-91942907-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91942907
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91942907
    reference: chr 14
allele count: 1
allele frequency: 1.176359872012046e-5
allele num: 85008
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.277-39T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.277-39T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.277-39T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.502-39T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.994-39T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.1001-39T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.994-39T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.994-39T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.377-84T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.994-39T>C
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8937
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13756
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14761
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5898
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5152
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

14-91942908-TTTTA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91942908
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91942904
    reference: chr 14
allele count: 2
allele frequency: 2.371803994117926e-5
allele num: 84324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.1001-44_1001-41delTAAA
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.377-89_377-86delTAAA
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.994-44_994-41delTAAA
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.502-44_502-41delTAAA
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.277-44_277-41delTAAA
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.994-44_994-41delTAAA
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.994-44_994-41delTAAA
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.277-44_277-41delTAAA
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.994-44_994-41delTAAA
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.277-44_277-41delTAAA
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13757
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14685
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9026
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5930
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10791
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: TTTTA
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

14-91942911-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91942911
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91942911
    reference: chr 14
allele count: 1
allele frequency: 1.437814521926671e-5
allele num: 69550
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.994-43A>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.1001-43A>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.994-43A>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.994-43A>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.277-43A>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.277-43A>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.994-43A>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.502-43A>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.377-88A>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.277-43A>T
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12999
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11660
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12412
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6337
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5970
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3989
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

14-91943206-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91943206
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91943206
    reference: chr 14
allele count: 9
allele frequency: 3.229510549734462e-4
allele num: 27868
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.1000+47C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.276+47C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.376+47C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.276+47C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.276+47C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.993+47C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.501+47C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.993+47C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.993+47C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.993+47C>T
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2350
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23576
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21627
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

14-91943211-GTTGTT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91943211
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91943206
    reference: chr 14
allele count: 1
allele frequency: 3.534817956875221e-5
allele num: 28290
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.276+37_276+41delAACAA
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.993+37_993+41delAACAA
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.993+37_993+41delAACAA
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.501+37_501+41delAACAA
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.276+37_276+41delAACAA
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.1000+37_1000+41delAACAA
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.276+37_276+41delAACAA
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.376+37_376+41delAACAA
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.993+37_993+41delAACAA
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.993+37_993+41delAACAA
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22094
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17957
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15916
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: GTTGTT
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

14-91943213-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91943213
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91943213
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 28674
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.993+40A>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.276+40A>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.376+40A>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.501+40A>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.1000+40A>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.993+40A>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.276+40A>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.993+40A>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.276+40A>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.993+40A>T
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23915
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21314
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: T
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

14-91943214-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91943214
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91943214
    reference: chr 14
allele count: 1
allele frequency: 3.495037047392702e-5
allele num: 28612
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.276+39C>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.993+39C>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.276+39C>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.501+39C>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.1000+39C>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.993+39C>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.276+39C>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.993+39C>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.993+39C>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.376+39C>A
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20848
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24365
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1409
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

14-91943219-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91943219
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91943219
    reference: chr 14
allele count: 3
allele frequency: 1.03462546558146e-4
allele num: 28996
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.276+34T>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.276+34T>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.501+34T>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.993+34T>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.376+34T>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.993+34T>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.1000+34T>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.993+34T>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.993+34T>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.276+34T>A
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18778
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3678
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21021
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2886
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3855
  bin: 6.25e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

14-91943224-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91943224
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91943225
    reference: chr 14
allele count: 112
allele frequency: 3.753602788390643e-3
allele num: 29838
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.376+28dupT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.993+28dupT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.276+28dupT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.993+28dupT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.501+28dupT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.1000+28dupT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.276+28dupT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.993+28dupT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.993+28dupT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.276+28dupT
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28099
  bin: 7.5e0
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 16938
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3620
  bin: 1.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 3
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

14-91943224-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91943224
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91943223
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 29838
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.993+28delT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.276+28delT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.276+28delT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.993+28delT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.276+28delT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.993+28delT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.1000+28delT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.501+28delT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.993+28delT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.376+28delT
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 16938
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3620
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28099
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2543
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: TA
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

14-91943235-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91943235
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91943235
    reference: chr 14
allele count: 2
allele frequency: 6.189650903689032e-5
allele num: 32312
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.276+18A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.276+18A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.276+18A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.993+18A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.993+18A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.1000+18A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.501+18A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.993+18A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.993+18A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.376+18A>G
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32164
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11900
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28906
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

14-91943238-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91943238
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91943238
    reference: chr 14
allele count: 153
allele frequency: 4.584407023431413e-3
allele num: 33374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.501+15A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.993+15A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.993+15A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.376+15A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.1000+15A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.276+15A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.276+15A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.276+15A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.993+15A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.993+15A>G
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10628
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32846
  bin: 7.5e0
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 9.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 1.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4041
  bin: 1.25e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3798
  bin: 2.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 10014
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2003
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 3
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

14-91943256-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91943256
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91943256
    reference: chr 14
allele count: 1
allele frequency: 2.462326405988378e-5
allele num: 40612
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.273A>G
  hgvsp: ENST00000555462.1:c.273A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.990A>G
  hgvsp: ENST00000554684.1:c.990A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.997A>G
  hgvsp: ENST00000554308.1:c.997A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.990A>G
  hgvsp: ENST00000337238.4:c.990A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.990A>G
  hgvsp: ENST00000554943.1:c.990A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.498A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.273A>G
  hgvsp: ENST00000428424.2:c.273A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.990A>G
  hgvsp: ENST00000554390.1:c.990A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.273A>G
  hgvsp: ENST00000555029.1:c.273A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.373A>G
  hgvsp: ENST00000555470.1:c.373A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3791
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34970
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5026
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu330Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

14-91943259-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91943259
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91943259
    reference: chr 14
allele count: 1
allele frequency: 2.384017546369141e-5
allele num: 41946
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.987G>A
  hgvsp: ENST00000554943.1:c.987G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.987G>A
  hgvsp: ENST00000554390.1:c.987G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.987G>A
  hgvsp: ENST00000554684.1:c.987G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.270G>A
  hgvsp: ENST00000428424.2:c.270G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.987G>A
  hgvsp: ENST00000337238.4:c.987G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.270G>A
  hgvsp: ENST00000555029.1:c.270G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.370G>A
  hgvsp: ENST00000555470.1:c.370G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.495G>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.270G>A
  hgvsp: ENST00000555462.1:c.270G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.994G>A
  hgvsp: ENST00000554308.1:c.994G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34852
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4585
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln329Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: C
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP

14-91943275-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91943275
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91943275
    reference: chr 14
allele count: 1
allele frequency: 2.043234849413592e-5
allele num: 48942
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.971A>T
  hgvsp: ENSP00000450864.1:p.Asp324Val
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.978A>T
  hgvsp: ENSP00000450473.1:p.Asp327Val
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.971A>T
  hgvsp: ENSP00000337125.4:p.Asp324Val
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.254A>T
  hgvsp: ENSP00000452257.1:p.Asp85Val
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.354A>T
  hgvsp: ENSP00000451841.1:p.Asp119Val
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.971A>T
  hgvsp: ENSP00000452596.1:p.Asp324Val
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.254A>T
  hgvsp: ENSP00000392704.2:p.Asp85Val
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.254A>T
  hgvsp: ENSP00000450891.1:p.Asp85Val
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.971A>T
  hgvsp: ENSP00000450883.1:p.Asp324Val
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.479A>T
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33302
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp324Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

14-91943286-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91943286
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91943286
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 51952
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.243T>C
  hgvsp: ENST00000555029.1:c.243T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.960T>C
  hgvsp: ENST00000554943.1:c.960T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.243T>C
  hgvsp: ENST00000555462.1:c.243T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.343T>C
  hgvsp: ENST00000555470.1:c.343T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.960T>C
  hgvsp: ENST00000554684.1:c.960T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.967T>C
  hgvsp: ENST00000554308.1:c.967T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.960T>C
  hgvsp: ENST00000337238.4:c.960T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.960T>C
  hgvsp: ENST00000554390.1:c.960T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.468T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.243T>C
  hgvsp: ENST00000428424.2:c.243T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32351
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12035
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3746
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp320Asp
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

14-91943295-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91943295
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91943295
    reference: chr 14
allele count: 1
allele frequency: 1.861434793939168e-5
allele num: 53722
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.334A>C
  hgvsp: ENSP00000451841.1:p.Gln112His
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.951A>C
  hgvsp: ENSP00000337125.4:p.Gln317His
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.951A>C
  hgvsp: ENSP00000452596.1:p.Gln317His
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.234A>C
  hgvsp: ENSP00000450891.1:p.Gln78His
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.951A>C
  hgvsp: ENSP00000450864.1:p.Gln317His
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.951A>C
  hgvsp: ENSP00000450883.1:p.Gln317His
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.234A>C
  hgvsp: ENSP00000392704.2:p.Gln78His
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.459A>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.958A>C
  hgvsp: ENSP00000450473.1:p.Gln320His
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.234A>C
  hgvsp: ENSP00000452257.1:p.Gln78His
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31569
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln317His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS

14-91943319-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91943319
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91943319
    reference: chr 14
allele count: 1
allele frequency: 1.916075876604713e-5
allele num: 52190
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.210A>G
  hgvsp: ENST00000555029.1:c.210A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.210A>G
  hgvsp: ENST00000428424.2:c.210A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.210A>G
  hgvsp: ENST00000555462.1:c.210A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.927A>G
  hgvsp: ENST00000337238.4:c.927A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.927A>G
  hgvsp: ENST00000554943.1:c.927A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.927A>G
  hgvsp: ENST00000554684.1:c.927A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.435A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.934A>G
  hgvsp: ENST00000554308.1:c.934A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.927A>G
  hgvsp: ENST00000554390.1:c.927A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.310A>G
  hgvsp: ENST00000555470.1:c.310A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8508
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30737
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys309Lys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

14-91943342-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91943342
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91943342
    reference: chr 14
allele count: 1
allele frequency: 2.078829203392649e-5
allele num: 48104
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.424-12T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.916-12T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.199-12T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.916-12T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.916-12T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.299-12T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.923-12T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.199-12T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.916-12T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.199-12T>C
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8628
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4124
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1414
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3690
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

14-91943350-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91943350
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91943350
    reference: chr 14
allele count: 1
allele frequency: 2.209163610657005e-5
allele num: 45266
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.916-20A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.199-20A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.299-20A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.424-20A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.923-20A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.199-20A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.916-20A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.199-20A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.916-20A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.916-20A>G
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10164
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2991
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

14-91943351-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91943351
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91943351
    reference: chr 14
allele count: 1
allele frequency: 2.210824195259993e-5
allele num: 45232
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.923-21C>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.199-21C>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.916-21C>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.299-21C>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.916-21C>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.199-21C>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.424-21C>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.916-21C>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.916-21C>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.199-21C>G
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10172
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3690
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/14-91943352-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91943352
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91943352
    reference: chr 14
allele count: 1
allele frequency: 2.232740912744485e-5
allele num: 44788
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.916-22G>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.424-22G>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.916-22G>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.916-22G>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.199-22G>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.923-22G>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.916-22G>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.299-22G>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.199-22G>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.199-22G>T
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10131
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12584
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25019
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1793
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

14-91943353-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91943353
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91943353
    reference: chr 14
allele count: 1
allele frequency: 2.294841196989168e-5
allele num: 43576
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.424-23T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.916-23T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.916-23T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.299-23T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.916-23T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.199-23T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.199-23T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.916-23T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.199-23T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.923-23T>C
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13790
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9783
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24343
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2627
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: A
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

14-91943355-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91943355
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91943355
    reference: chr 14
allele count: 1
allele frequency: 2.288853284504463e-5
allele num: 43690
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.923-25A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.916-25A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.199-25A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.199-25A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.916-25A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.916-25A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.299-25A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.424-25A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.199-25A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.916-25A>G
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9749
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24357
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13843
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

14-91943357-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91943357
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91943357
    reference: chr 14
allele count: 4
allele frequency: 9.374267635340989e-5
allele num: 42670
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.424-27T>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.916-27T>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.916-27T>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.199-27T>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.299-27T>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.923-27T>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.199-27T>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.199-27T>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.916-27T>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.916-27T>A
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9395
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23943
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14692
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

14-91943370-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91943370
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91943370
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 35882
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.199-40C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.916-40C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.299-40C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.424-40C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.916-40C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.916-40C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.916-40C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.199-40C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.199-40C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.923-40C>T
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 6490
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17271
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24101
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6306
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

14-91943379-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91943379
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91943379
    reference: chr 14
allele count: 2
allele frequency: 6.002400960384154e-5
allele num: 33320
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.199-49T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.916-49T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.916-49T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.923-49T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.424-49T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.916-49T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.299-49T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.199-49T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.916-49T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.199-49T>C
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24975
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5341
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17396
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3693
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 18030
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

14-91947869-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91947869
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91947869
    reference: chr 14
allele count: 5
allele frequency: 5.828320977292861e-5
allele num: 85788
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.298+51A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.423+51A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.915+51A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.915+51A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.199-4539A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.915+51A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.915+51A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.199-4539A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.199-4539A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.922+51A>G
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12665
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18337
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5994
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4628
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12212
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6662
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1758
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7846
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

14-91947871-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91947871
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91947871
    reference: chr 14
allele count: 1
allele frequency: 1.169645363525779e-5
allele num: 85496
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.915+49C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.915+49C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.298+49C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.922+49C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.423+49C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.199-4541C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.199-4541C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.915+49C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.915+49C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.199-4541C>T
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4623
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12649
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6697
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18329
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6622
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1775
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

14-91947876-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91947876
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91947876
    reference: chr 14
allele count: 2
allele frequency: 2.342139778902005e-5
allele num: 85392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.915+44G>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.922+44G>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.199-4546G>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.915+44G>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.298+44G>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.199-4546G>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.199-4546G>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.915+44G>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.423+44G>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.915+44G>A
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 18210
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4498
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12605
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9389
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3361
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

14-91947877-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91947877
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91947877
    reference: chr 14
allele count: 11
allele frequency: 1.285076754129769e-4
allele num: 85598
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.915+43C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.915+43C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.298+43C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.915+43C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.915+43C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.423+43C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.199-4547C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.199-4547C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.199-4547C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.922+43C>T
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12628
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3494
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17995
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10179
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8363
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6384
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3447
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

14-91947879-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91947879
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91947879
    reference: chr 14
allele count: 2
allele frequency: 2.312245652978172e-5
allele num: 86496
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.915+41A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.915+41A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.199-4549A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.922+41A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.915+41A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.423+41A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.199-4549A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.199-4549A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.915+41A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.298+41A>G
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12714
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6897
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2417
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3358
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

14-91947900-AAAGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91947900
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91947896
    reference: chr 14
allele count: 1
allele frequency: 1.101176056027838e-5
allele num: 90812
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.199-4574_199-4571delCCTT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.915+16_915+19delCCTT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.915+16_915+19delCCTT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.199-4574_199-4571delCCTT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.915+16_915+19delCCTT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.298+16_298+19delCCTT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.423+16_423+19delCCTT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.922+16_922+19delCCTT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.199-4574_199-4571delCCTT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.915+16_915+19delCCTT
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12496
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5053
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9659
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2558
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26172
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: AAAGG
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

14-91947958-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91947958
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91947958
    reference: chr 14
allele count: 1
allele frequency: 9.09338910611985e-6
allele num: 109970
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.877A>G
  hgvsp: ENSP00000450864.1:p.Ile293Val
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.877A>G
  hgvsp: ENSP00000337125.4:p.Ile293Val
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.877A>G
  hgvsp: ENSP00000452596.1:p.Ile293Val
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.884A>G
  hgvsp: ENSP00000450473.1:p.Ile296Val
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.199-4628A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.260A>G
  hgvsp: ENSP00000451841.1:p.Ile88Val
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.877A>G
  hgvsp: ENSP00000450883.1:p.Ile293Val
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.385A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.199-4628A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.199-4628A>G
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10282
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3586
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile293Val
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD

14-91947959-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91947959
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91947959
    reference: chr 14
allele count: 2
allele frequency: 1.81330238630594e-5
allele num: 110296
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.199-4629T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.384T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.876T>C
  hgvsp: ENST00000554684.1:c.876T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.199-4629T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.199-4629T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.876T>C
  hgvsp: ENST00000554390.1:c.876T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.876T>C
  hgvsp: ENST00000554943.1:c.876T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.259T>C
  hgvsp: ENST00000555470.1:c.259T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.883T>C
  hgvsp: ENST00000554308.1:c.883T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.876T>C
  hgvsp: ENST00000337238.4:c.876T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10353
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5838
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Phe292Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

14-91947961-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91947961
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91947961
    reference: chr 14
allele count: 1
allele frequency: 9.00835975785529e-6
allele num: 111008
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.382T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.874T>C
  hgvsp: ENSP00000337125.4:p.Phe292Leu
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.874T>C
  hgvsp: ENSP00000452596.1:p.Phe292Leu
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.199-4631T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.257T>C
  hgvsp: ENSP00000451841.1:p.Phe87Leu
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.874T>C
  hgvsp: ENSP00000450883.1:p.Phe292Leu
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.881T>C
  hgvsp: ENSP00000450473.1:p.Phe295Leu
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.199-4631T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.199-4631T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.874T>C
  hgvsp: ENSP00000450864.1:p.Phe292Leu
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5047
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36374
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Phe292Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD

14-91947998-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91947998
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91947998
    reference: chr 14
allele count: 105
allele frequency: 8.75e-4
allele num: 120000
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.837G>A
  hgvsp: ENST00000337238.4:c.837G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.199-4668G>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.837G>A
  hgvsp: ENST00000554943.1:c.837G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.199-4668G>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.844G>A
  hgvsp: ENST00000554308.1:c.844G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.837G>A
  hgvsp: ENST00000554390.1:c.837G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.837G>A
  hgvsp: ENST00000554684.1:c.837G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.220G>A
  hgvsp: ENST00000555470.1:c.220G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.199-4668G>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.345G>A
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 13378
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40666
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3019
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser279Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

14-91947999-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91947999
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91947999
    reference: chr 14
allele count: 3
allele frequency: 2.495798738789704e-5
allele num: 120202
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.344C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.199-4669C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.836C>T
  hgvsp: ENSP00000450883.1:p.Ser279Leu
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.843C>T
  hgvsp: ENSP00000450473.1:p.Ser282Leu
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.836C>T
  hgvsp: ENSP00000337125.4:p.Ser279Leu
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.836C>T
  hgvsp: ENSP00000452596.1:p.Ser279Leu
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.219C>T
  hgvsp: ENSP00000451841.1:p.Ser74Leu
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.199-4669C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.199-4669C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.836C>T
  hgvsp: ENSP00000450864.1:p.Ser279Leu
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3018
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4432
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser279Leu
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP

14-91948008-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91948008
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91948008
    reference: chr 14
allele count: 1
allele frequency: 8.289811821271656e-6
allele num: 120630
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.827C>G
  hgvsp: ENSP00000450864.1:p.Pro276Arg
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.827C>G
  hgvsp: ENSP00000337125.4:p.Pro276Arg
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.827C>G
  hgvsp: ENSP00000450883.1:p.Pro276Arg
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.335C>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.827C>G
  hgvsp: ENSP00000452596.1:p.Pro276Arg
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.210C>G
  hgvsp: ENSP00000451841.1:p.Pro71Arg
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.199-4678C>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.199-4678C>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.199-4678C>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.834C>G
  hgvsp: ENSP00000450473.1:p.Pro279Arg
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro276Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

14-91948018-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91948018
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91948018
    reference: chr 14
allele count: 1
allele frequency: 8.269246671628215e-6
allele num: 120930
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.325A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.817A>G
  hgvsp: ENSP00000450883.1:p.Met273Val
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.817A>G
  hgvsp: ENSP00000337125.4:p.Met273Val
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.824A>G
  hgvsp: ENSP00000450473.1:p.Met276Val
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.199-4688A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.817A>G
  hgvsp: ENSP00000452596.1:p.Met273Val
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.200A>G
  hgvsp: ENSP00000451841.1:p.Met68Val
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.199-4688A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.199-4688A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.817A>G
  hgvsp: ENSP00000450864.1:p.Met273Val
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13992
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40822
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Met273Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

14-91948043-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91948043
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91948043
    reference: chr 14
allele count: 9152
allele frequency: 7.552401386367387e-2
allele num: 121180
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.792A>G
  hgvsp: ENST00000554684.1:c.792A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.175A>G
  hgvsp: ENST00000555470.1:c.175A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.799A>G
  hgvsp: ENST00000554308.1:c.799A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.199-4713A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.199-4713A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.792A>G
  hgvsp: ENST00000337238.4:c.792A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.792A>G
  hgvsp: ENST00000554390.1:c.792A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.792A>G
  hgvsp: ENST00000554943.1:c.792A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.300A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.199-4713A>G
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 190
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 3.75e1
  variant carriers: 456
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 5.75e1
  variant carriers: 858
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 6.25e1
  variant carriers: 808
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.25e1
  variant carriers: 586
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 4.25e1
  variant carriers: 620
genotype depth: GenotypeDepth
  all individuals: 35501
  bin: 2.25e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 9.75e1
  variant carriers: 1288
genotype depth: GenotypeDepth
  all individuals: 12574
  bin: 2.75e1
  variant carriers: 141
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.75e1
  variant carriers: 457
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.25e1
  variant carriers: 836
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 4.75e1
  variant carriers: 781
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.75e1
  variant carriers: 724
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 8.25e1
  variant carriers: 357
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.75e1
  variant carriers: 268
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 3.25e1
  variant carriers: 269
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr264Thr
num of homozygotes: 432
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

14-91948046-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91948046
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91948046
    reference: chr 14
allele count: 1
allele frequency: 8.250144377526608e-6
allele num: 121210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.199-4716G>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.199-4716G>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.297G>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.789G>A
  hgvsp: ENST00000337238.4:c.789G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.199-4716G>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.789G>A
  hgvsp: ENST00000554390.1:c.789G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.789G>A
  hgvsp: ENST00000554943.1:c.789G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.789G>A
  hgvsp: ENST00000554684.1:c.789G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.172G>A
  hgvsp: ENST00000555470.1:c.172G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.796G>A
  hgvsp: ENST00000554308.1:c.796G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln263Gln
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD

14-91948052-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91948052
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91948052
    reference: chr 14
allele count: 1
allele frequency: 8.248239000973292e-6
allele num: 121238
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.199-4722T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.199-4722T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.783T>C
  hgvsp: ENST00000554943.1:c.783T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451841
  ensembl transcript: ENST00000555470
  gene symbol: SMEK1
  hgvsc: ENST00000555470.1:c.166T>C
  hgvsp: ENST00000555470.1:c.166T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100796
  ensembl transcript: ENST00000554574
  gene symbol: SMEK1
  hgvsc: ENST00000554574.1:n.291T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.783T>C
  hgvsp: ENST00000554684.1:c.783T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.783T>C
  hgvsp: ENST00000337238.4:c.783T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.199-4722T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450473
  ensembl transcript: ENST00000554308
  gene symbol: SMEK1
  hgvsc: ENST00000554308.1:c.790T>C
  hgvsp: ENST00000554308.1:c.790T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.783T>C
  hgvsp: ENST00000554390.1:c.783T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile261Ile
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 2904
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1382
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10834
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2795
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39498
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 405
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.25e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9960
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.067961165048543e-5
allele num: 16480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65962
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.071e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.626e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 8.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.78e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 1.265e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.71e0

DP
type: SiteQuality
SIO_000300: 1.753842e6

GenotypeQuality
all individuals: 104
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 55
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 39923
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10866
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2900
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1383
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 9.75e1
variant carriers: 7

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06501698204755e-5
allele num: 16488
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9998
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.082102203923468e-5
allele num: 66064
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.672e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.757954e6

VQSLOD
type: SiteQuality
SIO_000300: 5.21e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

QD
type: SiteQuality
SIO_000300: 1.23e1

GenotypeQuality
all individuals: 50
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1378
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10864
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 407
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40056
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2900
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 3.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.53898992344237e-5
allele num: 66094
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.81e-1

MQ
type: SiteQuality
SIO_000300: 5.717e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.66e-1

FS
type: SiteQuality
SIO_000300: 7.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

DP
type: SiteQuality
SIO_000300: 1.759132e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.13e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.38e-1

QD
type: SiteQuality
SIO_000300: 8.640000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10869
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40125
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2804
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 768
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1386
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2897
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10064
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512218727316719e-5
allele num: 66128
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.760484e6

QD
type: SiteQuality
SIO_000300: 1.153e1

MQRankSum
type: SiteQuality
SIO_000300: -8.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.24e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.58e0

FS
type: SiteQuality
SIO_000300: 9.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.77e-1

GenotypeQuality
all individuals: 2801
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40371
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 3.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 49
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10891
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1381
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2895
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 766
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 33
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510345869204048e-5
allele num: 66210
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10154
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

DP
type: SiteQuality
SIO_000300: 1.764368e6

QD
type: SiteQuality
SIO_000300: 1.297e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.029e1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.033e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

GenotypeQuality
all individuals: 2799
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 10904
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 766
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 47
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2895
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 390
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40494
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66218
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10180
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.43e-1

FS
type: SiteQuality
SIO_000300: 2.741e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.43e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.301e0

DP
type: SiteQuality
SIO_000300: 1.765017e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.896e1

QD
type: SiteQuality
SIO_000300: 1.875e1

GenotypeQuality
all individuals: 39
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10905
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2883
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2802
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 765
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 31
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40645
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1379
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66290
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.76777e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.695e0

FS
type: SiteQuality
SIO_000300: 2.63e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.011e1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

MQRankSum
type: SiteQuality
SIO_000300: 1.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.83e-1

GenotypeQuality
all individuals: 2804
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40667
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1378
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 765
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 27
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2882
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10912
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 2.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507840772014475e-5
allele num: 66320
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.768397e6

VQSLOD
type: SiteQuality
SIO_000300: 9.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.63e-1

QD
type: SiteQuality
SIO_000300: 1.366e1

GenotypeQuality
all individuals: 388
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 764
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 25
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10922
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1378
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 40745
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2805
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2884
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66376
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.34e-1

QD
type: SiteQuality
SIO_000300: 1.161e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.016e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.36e-1

FS
type: SiteQuality
SIO_000300: 1.656e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

DP
type: SiteQuality
SIO_000300: 1.769847e6

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 39
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2884
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2805
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 764
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10920
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1375
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40753
bin: 6.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506568639267205e-5
allele num: 66376
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.770004e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.548e0

MQ
type: SiteQuality
SIO_000300: 5.695e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.222e0

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.062e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-2

GenotypeQuality
all individuals: 2881
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2800
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40763
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10919
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 27
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 243
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1374
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 765
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.012592637223595e-5
allele num: 66388
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.770003e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 3.358e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.19e-1

QD
type: SiteQuality
SIO_000300: 1.488e1

VQSLOD
type: SiteQuality
SIO_000300: 7.81e-1

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

GenotypeQuality
all individuals: 26
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40778
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2873
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 784
bin: 9.75e1
variant carriers: 40

GenotypeQuality
all individuals: 247
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1371
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 402
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2802
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.703085581214826e-5
allele num: 10306
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 11
allele frequency: 6.663435909861885e-4
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 27
allele frequency: 4.066755030726594e-4
allele num: 66392
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.772209e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.302e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.59e-1

FS
type: SiteQuality
SIO_000300: 5.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.79e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-2

QD
type: SiteQuality
SIO_000300: 1.163e1

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
all individuals: 10920
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1375
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2873
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2807
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40762
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506205566935775e-5
allele num: 66392
num of homozygotes: 0

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.733e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.43e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.767e0

DP
type: SiteQuality
SIO_000300: 1.769487e6

QD
type: SiteQuality
SIO_000300: 1.149e1

VQSLOD
type: SiteQuality
SIO_000300: 6.73e-1

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

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

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2872
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 265
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40781
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2805
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1372
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10913
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66396
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -3.66e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.63e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 1.161e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.769626e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-2

GenotypeQuality
all individuals: 40606
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10893
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2800
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2868
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1364
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 747
bin: 9.75e1
variant carriers: 8

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

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 2
allele frequency: 1.957713390759593e-4
allele num: 10216
num of homozygotes: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.424242424242424e-4
allele num: 16500
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.014227152158187e-5
allele num: 66352
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.75e-1

DP
type: SiteQuality
SIO_000300: 1.767544e6

QD
type: SiteQuality
SIO_000300: 1.302e1

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2788
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10866
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1358
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40325
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2860
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 742
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 401
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21256214380987e-4
allele num: 16494
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10064
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.058244512213533e-5
allele num: 66238
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.4e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 1.763511e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e-1

QD
type: SiteQuality
SIO_000300: 1.3e1

FS
type: SiteQuality
SIO_000300: 3.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e0

GenotypeQuality
all individuals: 2858
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 41
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 382
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1355
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10861
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40254
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2785
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.020144362900547e-5
allele num: 66222
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10026
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.76301e6

FS
type: SiteQuality
SIO_000300: 1.529e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.169e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.288e0

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

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1355
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2784
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 40217
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2858
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10855
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9996
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510710940568632e-5
allele num: 66194
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.41e1

MQRankSum
type: SiteQuality
SIO_000300: 7.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.307e0

VQSLOD
type: SiteQuality
SIO_000300: 1.49e-1

DP
type: SiteQuality
SIO_000300: 1.761355e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.68e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.33e-1

GenotypeQuality
all individuals: 909
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2783
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2854
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 131
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 399
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10844
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1356
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512721991952319e-5
allele num: 66106
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9942
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.64e0

FS
type: SiteQuality
SIO_000300: 4.199e0

DP
type: SiteQuality
SIO_000300: 1.758077e6

VQSLOD
type: SiteQuality
SIO_000300: 9.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.954e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.09e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.24e-1

QD
type: SiteQuality
SIO_000300: 1.241e1

GenotypeQuality
all individuals: 1356
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2853
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40031
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2782
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10841
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 912
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 59
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51267622678042e-5
allele num: 66108
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9940
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.193e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

VQSLOD
type: SiteQuality
SIO_000300: 5.21e-1

DP
type: SiteQuality
SIO_000300: 1.758079e6

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 8.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.33e-1

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

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2632
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1341
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37919
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2821
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2733
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 285
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 86
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10626
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9724
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525832341542311e-5
allele num: 65538
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 6.283e0

QD
type: SiteQuality
SIO_000300: 1.235e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.948e0

MQRankSum
type: SiteQuality
SIO_000300: -3.01e-1

DP
type: SiteQuality
SIO_000300: 1.73048e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

GenotypeQuality
all individuals: 1440
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2400
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26789
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2122
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 759
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12305
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1267
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 9.75e1
variant carriers: 18

GenotypeQuality
all individuals: 350
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8244
num of homozygotes: 0

Latino
type: Population
allele count: 17
allele frequency: 1.509500976735926e-3
allele num: 11262
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.1441647597254e-3
allele num: 874
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9358
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63702
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.028e0

VQSLOD
type: SiteQuality
SIO_000300: 3.59e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.276e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

DP
type: SiteQuality
SIO_000300: 1.556788e6

GenotypeQuality
all individuals: 119
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7261
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15825
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1237
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2645
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3316
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2437
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2169
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16154
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8084
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11122
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.606322485302149e-5
allele num: 62254
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6296
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.442455e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.755e0

QD
type: SiteQuality
SIO_000300: 1.274e1

VQSLOD
type: SiteQuality
SIO_000300: 3.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.27e-1

GenotypeQuality
all individuals: 1110
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16638
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3713
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6497
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4046
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2088
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2473
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1229
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2392
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 1.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10992
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8844
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.954092080058128e-5
allele num: 60556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15964
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7850
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6102
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.38e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.784e0

FS
type: SiteQuality
SIO_000300: 1.3818e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

DP
type: SiteQuality
SIO_000300: 1.364293e6

QD
type: SiteQuality
SIO_000300: 1.396e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

GenotypeQuality
all individuals: 2031
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1336
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4325
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4132
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2357
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1221
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14780
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6074
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5950
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15732
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.693136026548373e-5
allele num: 59062
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.47e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.324008e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.531e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

VQSLOD
type: SiteQuality
SIO_000300: 4.2e0

QD
type: SiteQuality
SIO_000300: 6.14e0

GenotypeQuality
all individuals: 215
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 784
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3252
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6705
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1639
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2163
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15475
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2488
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10524
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5262
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 903
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.432664756446991e-4
allele num: 13960
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4270
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3602
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 656
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46102
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9946
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6012
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.18e-2

QD
type: SiteQuality
SIO_000300: 1.379e1

VQSLOD
type: SiteQuality
SIO_000300: -3.066e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.59e0

FS
type: SiteQuality
SIO_000300: 6.114e0

DP
type: SiteQuality
SIO_000300: 9.98019e5

BaseQRankSum
type: SiteQuality
SIO_000300: 4.14e0

GenotypeQuality
all individuals: 782
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10611
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6685
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1063
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15832
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2169
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 901
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3243
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5246
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2488
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1146
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6058
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3658
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46372
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9978
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.1571714858288e-5
allele num: 13972
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 662
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.19e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.56e-1

DP
type: SiteQuality
SIO_000300: 9.95272e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.18e0

QD
type: SiteQuality
SIO_000300: 2.379e1

VQSLOD
type: SiteQuality
SIO_000300: -2.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.401e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 193
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2441
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15817
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3248
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 803
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5212
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1180
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2229
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6605
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1052
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5176
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 892
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5990
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4248
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3638
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13846
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.170798419658751e-5
allele num: 46066
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.011736139214893e-4
allele num: 9884
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.92021e5

VQSLOD
type: SiteQuality
SIO_000300: 4.23e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e-1

MQ
type: SiteQuality
SIO_000300: 5.781e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

QD
type: SiteQuality
SIO_000300: 4.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.31e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 312
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1681
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2290
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3873
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11692
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3000
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2073
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10612
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4327
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 267
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1044
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4721
bin: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12916
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2808
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8368
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4742
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.660989888238425e-5
allele num: 37580
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.96e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.122e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.5e-2

MQ
type: SiteQuality
SIO_000300: 5.889e1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

DP
type: SiteQuality
SIO_000300: 8.62971e5

QD
type: SiteQuality
SIO_000300: 1.045e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.162e0

GenotypeQuality
all individuals: 7192
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 17528
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1285
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1420
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6985
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2648
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 3697
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 395
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 265
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11321
bin: 2.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2836
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12856
num of homozygotes: 0

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

African
type: Population
allele count: 4
allele frequency: 1.084010840108401e-3
allele num: 3690
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.209774981853375e-4
allele num: 8266
num of homozygotes: 0

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

Latino
type: Population
allele count: 4
allele frequency: 5.319148936170213e-3
allele num: 752
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 8.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 8.56232e5

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.869e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.69e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

GenotypeQuality
all individuals: 466
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3698
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4310
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1437
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5942
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 197
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1639
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3382
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1135
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.65579543714592e-5
allele num: 13062
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 932
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1196
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.76089e5

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.38e0

MQ
type: SiteQuality
SIO_000300: 4.196e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.44e-2

QD
type: SiteQuality
SIO_000300: 1.1e1

GenotypeQuality
all individuals: 469
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4002
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17673
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3533
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3695
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1321
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1323
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17253
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1143
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5440
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8358
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 976
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13290
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3764
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1210
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.82705e5

FS
type: SiteQuality
SIO_000300: 2.372e0

MQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.22e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.683e0

QD
type: SiteQuality
SIO_000300: 1.127e1

GenotypeQuality
all individuals: 607
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1288
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3457
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1480
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17521
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18277
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5131
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3597
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1142
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3696
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 171
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3764
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1204
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 282
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 980
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13252
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.198753296571566e-4
allele num: 8342
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.29e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.171e0

MQRankSum
type: SiteQuality
SIO_000300: -8.93e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.720000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.829e1

DP
type: SiteQuality
SIO_000300: 8.86824e5

BaseQRankSum
type: SiteQuality
SIO_000300: -4.227e0

VQSLOD
type: SiteQuality
SIO_000300: -2.203e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

GenotypeQuality
all individuals: 3679
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4163
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1334
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16386
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1485
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1289
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1165
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1254
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 996
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 2.228826151560178e-4
allele num: 13460
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8378
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3810
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.123e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.11e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.397e0

DP
type: SiteQuality
SIO_000300: 9.03465e5

MQRankSum
type: SiteQuality
SIO_000300: -2.933e0

QD
type: SiteQuality
SIO_000300: 3.1e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.983e1

MQ
type: SiteQuality
SIO_000300: 5.395e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.093e0

GenotypeQuality
all individuals: 1539
bin: 2.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3430
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 15118
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 499
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2543
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 197
bin: 8.75e1
variant carriers: 10

GenotypeQuality
all individuals: 615
bin: 7.75e1
variant carriers: 4

GenotypeQuality
all individuals: 23661
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 3802
bin: 9.75e1
variant carriers: 111

GenotypeQuality
all individuals: 233
bin: 9.25e1
variant carriers: 8

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 7

GenotypeQuality
all individuals: 4141
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1280
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 8.25e1
variant carriers: 3

African
type: Population
allele count: 1
allele frequency: 2.565418163160595e-4
allele num: 3898
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1064
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.149425287356322e-3
allele num: 870
num of homozygotes: 0

South Asian
type: Population
allele count: 102
allele frequency: 1.209677419354839e-2
allele num: 8432
num of homozygotes: 3

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 5.729838132072769e-4
allele num: 13962
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.46e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.8e0

MQ
type: SiteQuality
SIO_000300: 6.023e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

DP
type: SiteQuality
SIO_000300: 9.17107e5

QD
type: SiteQuality
SIO_000300: 1.508e1

FS
type: SiteQuality
SIO_000300: 9.350000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

GenotypeQuality
all individuals: 737
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3802
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23661
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15118
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1539
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1280
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3430
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1178
bin: 6.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 410
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4141
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1064
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13962
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3898
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8432
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1324
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.17107e5

MQ
type: SiteQuality
SIO_000300: 6.023e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.46e-2

FS
type: SiteQuality
SIO_000300: 9.350000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

QD
type: SiteQuality
SIO_000300: 1.508e1

VQSLOD
type: SiteQuality
SIO_000300: 3.8e0

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

GenotypeQuality
all individuals: 411
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2326
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2029
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3703
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 11105
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1228
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5034
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 480
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1004
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 6.188118811881188e-4
allele num: 1616
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4206
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15316
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.167406023815083e-4
allele num: 8566
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1306
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 298
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.58404e5

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

VQSLOD
type: SiteQuality
SIO_000300: 2.21e-1

QD
type: SiteQuality
SIO_000300: 1.178e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.99e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1811
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 230
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 517
bin: 3.75e1
variant carriers: 4

GenotypeQuality
all individuals: 142
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 92
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 139
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 459
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1542
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3805
bin: 9.75e1
variant carriers: 149

GenotypeQuality
all individuals: 625
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 481
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1243
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 30027
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 408
bin: 8.25e1
variant carriers: 5

GenotypeQuality
all individuals: 1275
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 8.75e1
variant carriers: 6

GenotypeQuality
all individuals: 5416
bin: 6.25e1
variant carriers: 1

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

Latino
type: Population
allele count: 1
allele frequency: 9.276437847866419e-4
allele num: 1078
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15808
num of homozygotes: 0

African
type: Population
allele count: 151
allele frequency: 3.39478417266187e-2
allele num: 4448
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1706
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 306
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1408
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.75435e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.4e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.84e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.37e0

QD
type: SiteQuality
SIO_000300: 1.514e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

GenotypeQuality
all individuals: 3690
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 302
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1299
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 694
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33726
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1314
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1150
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1698
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8369
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19798
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.110864252388358e-4
allele num: 9002
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 372
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5260
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2524
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2052
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1604
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.049725e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.38e0

MQRankSum
type: SiteQuality
SIO_000300: -9.15e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.02e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

QD
type: SiteQuality
SIO_000300: 1.409e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.9e-1

GenotypeQuality
all individuals: 4489
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9397
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34251
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1158
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1238
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1324
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1078
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 170
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3691
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 173
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.869971754163826e-5
allele num: 20534
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 384
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2156
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9086
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5412
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1724
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.087e1

FS
type: SiteQuality
SIO_000300: 3.151e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

VQSLOD
type: SiteQuality
SIO_000300: 7.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.599999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.164e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.064337e6

GenotypeQuality
all individuals: 556
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11678
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1299
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 868
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1414
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1025
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2733
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33212
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 649
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3691
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.080300310102824e-5
allele num: 24508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6056
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2672
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9526
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 432
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3406
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.839e0

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

DP
type: SiteQuality
SIO_000300: 1.123731e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 742
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 926
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13292
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 947
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33039
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2259
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3691
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1439
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26190
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2658
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6304
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 448
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2872
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9752
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

QD
type: SiteQuality
SIO_000300: 7.07e0

VQSLOD
type: SiteQuality
SIO_000300: -2.058e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

DP
type: SiteQuality
SIO_000300: 1.147994e6

GenotypeQuality
all individuals: 891
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 722
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13996
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2152
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1446
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32877
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 847
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3691
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 231
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.590673575129534e-4
allele num: 3860
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2964
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27222
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2910
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 464
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.873e0

MQ
type: SiteQuality
SIO_000300: 5.875e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.826e0

DP
type: SiteQuality
SIO_000300: 1.159005e6

MQRankSum
type: SiteQuality
SIO_000300: 6.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

QD
type: SiteQuality
SIO_000300: 6.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

FS
type: SiteQuality
SIO_000300: 8.565e0

GenotypeQuality
all individuals: 490
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34329
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3690
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 495
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1209
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10094
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3699
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1099
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1363
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 633
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2848
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3676
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6162
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2854
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26412
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.021867974657674e-4
allele num: 9786
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 452
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.55e0

QD
type: SiteQuality
SIO_000300: 1.021e1

MQRankSum
type: SiteQuality
SIO_000300: -1.052e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -6.496e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.92e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

DP
type: SiteQuality
SIO_000300: 1.112025e6

GenotypeQuality
all individuals: 184
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1622
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1191
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 621
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32118
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1207
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6025
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1255
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9007
bin: 7.5e0
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2628
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.117206982543641e-4
allele num: 3208
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24116
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5714
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 418
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.63e-2

FS
type: SiteQuality
SIO_000300: 7.582e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.028034e6

QD
type: SiteQuality
SIO_000300: 1.099e1

VQSLOD
type: SiteQuality
SIO_000300: 2.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

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

GenotypeQuality
all individuals: 27920
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1323
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2015
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2125
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4760
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12698
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1205
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3690
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 462
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1528
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2456
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5476
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.072501072501073e-4
allele num: 9324
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2942
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2236
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22430
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.281e0

QD
type: SiteQuality
SIO_000300: 1.031e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.19e-2

DP
type: SiteQuality
SIO_000300: 9.88493e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.96e-1

GenotypeQuality
all individuals: 105
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12733
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1727
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1517
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1203
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1289
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2111
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4801
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28160
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2232
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 3.396739130434783e-4
allele num: 2944
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2464
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22404
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.386e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

QD
type: SiteQuality
SIO_000300: 2.332e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.78e-1

DP
type: SiteQuality
SIO_000300: 9.88309e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.25e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.23e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.761e0

GenotypeQuality
all individuals: 3690
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 514
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13256
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1513
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2274
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27485
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1299
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4635
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1194
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22158
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2916
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2156
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.840264998159735e-4
allele num: 5434
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2446
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9280
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.342e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.83065e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.054e0

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

QD
type: SiteQuality
SIO_000300: 5.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.33e-2

GenotypeQuality
all individuals: 3690
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14560
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1516
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2787
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 231
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1385
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4224
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24958
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 606
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1175
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1986
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21460
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 4.184100418410042e-4
allele num: 2390
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2794
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 396
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5358
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9192
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.68992e5

VQSLOD
type: SiteQuality
SIO_000300: -8.234e-1

FS
type: SiteQuality
SIO_000300: 8.316000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e0

QD
type: SiteQuality
SIO_000300: 1.694e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.49e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeQuality
all individuals: 396
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14612
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1366
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2088
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25507
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1175
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2770
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4310
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3690
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2390
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5360
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.087192868014786e-4
allele num: 9198
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2808
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21526
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2010
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.05e0

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.66e-1

DP
type: SiteQuality
SIO_000300: 9.68527e5

VQSLOD
type: SiteQuality
SIO_000300: 3.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.51e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.2e1

GenotypeQuality
all individuals: 2339
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3194
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1508
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23940
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3691
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 586
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15523
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1160
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4091
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 8.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20988
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 1.474926253687316e-3
allele num: 2712
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2342
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 386
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5246
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9136
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1860
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

QD
type: SiteQuality
SIO_000300: 9.49e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.17e0

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.64e-2

FS
type: SiteQuality
SIO_000300: 2.039e0

VQSLOD
type: SiteQuality
SIO_000300: 5.42e-1

DP
type: SiteQuality
SIO_000300: 9.58497e5

ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-1

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

GenotypeQuality
all individuals: 596
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1449
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4747
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14316
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18501
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1557
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3689
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 874
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1017
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2797
bin: 6.25e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4540
num of homozygotes: 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: 8668
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1970
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17260
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1240
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1872
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.816e0

DP
type: SiteQuality
SIO_000300: 9.03047e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.43e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

MQ
type: SiteQuality
SIO_000300: 5.763e1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

QD
type: SiteQuality
SIO_000300: 1.405e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.22e-1

GenotypeQuality
all individuals: 1551
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 939
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1424
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10805
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6832
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7310
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2257
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2145
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4180
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1050
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.26055716626749e-4
allele num: 15866
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1688
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.59e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.49e-1

QD
type: SiteQuality
SIO_000300: 1.613e1

VQSLOD
type: SiteQuality
SIO_000300: 1.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.81e0

DP
type: SiteQuality
SIO_000300: 8.91271e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e0

GenotypeQuality
all individuals: 1457
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 8516
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5712
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1254
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4808
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3042
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 641
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3904
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1657
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3469
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3100
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4336
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6766
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 2.476473501733531e-4
allele num: 8076
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.417634996582365e-4
allele num: 5852
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.056174692601883e-5
allele num: 48634
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6744
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.969e0

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

DP
type: SiteQuality
SIO_000300: 8.87012e5

QD
type: SiteQuality
SIO_000300: 1.44e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

GenotypeQuality
all individuals: 399
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3026
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2967
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3110
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 805
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3223
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4341
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7042
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1665
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7793
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9334
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4740
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1452
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 279
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8992
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.489868891537545e-4
allele num: 6712
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5836
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8076
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 658
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6730
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

DP
type: SiteQuality
SIO_000300: 8.90721e5

VQSLOD
type: SiteQuality
SIO_000300: 7.53e-1

FS
type: SiteQuality
SIO_000300: 6.628e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.91e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.199e1

GenotypeQuality
all individuals: 571
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2893
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10428
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 832
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7725
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9411
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4010
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4296
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6529
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1694
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2101
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1641
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 191
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1449
bin: 9.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6694
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6732
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 662
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8080
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8984
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5814
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.130012803039689e-5
allele num: 48426
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.855e0

DP
type: SiteQuality
SIO_000300: 9.05355e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.106e0

FS
type: SiteQuality
SIO_000300: 3.82e0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

QD
type: SiteQuality
SIO_000300: 1.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1193
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4279
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1597
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1459
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 569
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3419
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2731
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7693
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1770
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10943
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1546
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11043
bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8968
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8088
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6744
num of homozygotes: 0

East Asian
type: Population
allele count: 11
allele frequency: 1.62914691943128e-3
allele num: 6752
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5826
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48556
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

FS
type: SiteQuality
SIO_000300: 5.489e0

VQSLOD
type: SiteQuality
SIO_000300: 5.570000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.251e1

MQ
type: SiteQuality
SIO_000300: 5.94e1

DP
type: SiteQuality
SIO_000300: 9.15178e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

GenotypeQuality
all individuals: 7597
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2780
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11546
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4252
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6098
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1455
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 415
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1892
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1301
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 858
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12827
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 197
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5884
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9114
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 672
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6802
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6824
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.076640847941296e-5
allele num: 49060
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.12e-1

FS
type: SiteQuality
SIO_000300: 5.311e0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e-1

DP
type: SiteQuality
SIO_000300: 9.30055e5

QD
type: SiteQuality
SIO_000300: 1.281e1

GenotypeQuality
all individuals: 12292
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2339
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4408
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 709
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3119
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1464
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 755
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2464
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2350
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 1.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7202
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9616
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.940617116242965e-5
allele num: 51530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6042
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.161e0

MQRankSum
type: SiteQuality
SIO_000300: -4.192e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.89e-1

DP
type: SiteQuality
SIO_000300: 1.073456e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.244e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

QD
type: SiteQuality
SIO_000300: 7.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

GenotypeQuality
all individuals: 628
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 62
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1222
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 912
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1027
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5982
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1041
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1482
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 79
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40338
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8364
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.623534759879209e-5
allele num: 61594
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11826
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11068
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9812
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.059e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.509e0

MQRankSum
type: SiteQuality
SIO_000300: 9.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.43e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e0

MQ
type: SiteQuality
SIO_000300: 5.917e1

FS
type: SiteQuality
SIO_000300: 1.72e0

DP
type: SiteQuality
SIO_000300: 1.3356e6

QD
type: SiteQuality
SIO_000300: 1.852e1

GenotypeQuality
all individuals: 485
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3603
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1021
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1483
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 55
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 622
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40309
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 924
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1027
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1031
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 850
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1189
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61740
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11080
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9826
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.3872045834328e-4
allele num: 8378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11950
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

FS
type: SiteQuality
SIO_000300: 9.978999999999999e0

DP
type: SiteQuality
SIO_000300: 1.339132e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.26e-1

QD
type: SiteQuality
SIO_000300: 1.453e1

GenotypeQuality
all individuals: 447
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 246
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1083
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41421
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1038
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1042
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5487
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 828
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1482
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3665
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9854
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62042
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8406
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 8.153946510110893e-5
allele num: 12264
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.4e0

MQRankSum
type: SiteQuality
SIO_000300: 6.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.027e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.347774e6

QD
type: SiteQuality
SIO_000300: 1.844e1

VQSLOD
type: SiteQuality
SIO_000300: -2.521e0

GenotypeQuality
all individuals: 749
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48972
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 756
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 265
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4354
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1211
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1599
bin: 9.75e1
variant carriers: 105

GenotypeQuality
all individuals: 180
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1201
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 60
allele frequency: 6.983240223463687e-3
allele num: 8592
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 12
allele frequency: 1.824817518248175e-3
allele num: 6576
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.333333333333334e-3
allele num: 900
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 22
allele frequency: 3.335152507428294e-4
allele num: 65964
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 4.934616333580064e-4
allele num: 16212
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.95e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.68e-1

DP
type: SiteQuality
SIO_000300: 1.46673e6

VQSLOD
type: SiteQuality
SIO_000300: 5.62e0

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-2

QD
type: SiteQuality
SIO_000300: 1.362e1

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 756
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1231
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1219
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49260
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1509
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 271
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.708737864077671e-5
allele num: 10300
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16278
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.027367401307823e-5
allele num: 66064
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.28e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

QD
type: SiteQuality
SIO_000300: 1.292e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 1.777e0

DP
type: SiteQuality
SIO_000300: 1.466401e6

GenotypeQuality
all individuals: 373
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 101
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1265
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49691
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1254
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 85
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1510
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 411
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4475
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66290
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.097560975609756e-5
allele num: 16400
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.387e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.105e0

VQSLOD
type: SiteQuality
SIO_000300: 5.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.561e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.22e-1

DP
type: SiteQuality
SIO_000300: 1.473158e6

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1269
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49900
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4537
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 285
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 791
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1270
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 124
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1516
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66450
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158748551564311e-4
allele num: 8630
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.477844e6

FS
type: SiteQuality
SIO_000300: 1.435e0

MQRankSum
type: SiteQuality
SIO_000300: 8.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

QD
type: SiteQuality
SIO_000300: 1.082e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.66e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3546
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 115
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 431
bin: 8.25e1
variant carriers: 5

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 758
bin: 7.75e1
variant carriers: 5

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 44789
bin: 6.25e1
variant carriers: 8

GenotypeQuality
all individuals: 872
bin: 7.25e1
variant carriers: 4

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 242
bin: 9.25e1
variant carriers: 6

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9598
bin: 9.75e1
variant carriers: 8686

European (Non-Finnish)
type: Population
allele count: 6734
allele frequency: 1.011050387364122e-1
allele num: 66604
num of homozygotes: 363

South Asian
type: Population
allele count: 892
allele frequency: 5.408027161392021e-2
allele num: 16494
num of homozygotes: 30

European (Finnish)
type: Population
allele count: 402
allele frequency: 6.094602789569436e-2
allele num: 6596
num of homozygotes: 11

East Asian
type: Population
allele count: 54
allele frequency: 6.248553575561213e-3
allele num: 8642
num of homozygotes: 0

African
type: Population
allele count: 409
allele frequency: 3.937235271467077e-2
allele num: 10388
num of homozygotes: 8

Latino
type: Population
allele count: 581
allele frequency: 5.03030303030303e-2
allele num: 11550
num of homozygotes: 16

Other
type: Population
allele count: 80
allele frequency: 8.830022075055188e-2
allele num: 906
num of homozygotes: 4

DP
type: SiteQuality
SIO_000300: 1.915326e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.9e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.68e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.03e-1

QD
type: SiteQuality
SIO_000300: 1.469e1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-1

GenotypeQuality
all individuals: 40
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1284
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1200
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 112
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4758
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50857
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1091
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 632
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500870504892838e-5
allele num: 66628
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.867e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

VQSLOD
type: SiteQuality
SIO_000300: -1.004e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.506295e6

FS
type: SiteQuality
SIO_000300: 2.13e0

QD
type: SiteQuality
SIO_000300: 1.166e1