14-91952086-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91952086
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91952086
    reference: chr 14
allele count: 2
allele frequency: 1.694369609786679e-5
allele num: 118038
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.199-12A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.199-12A>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.198+5005A>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.199-12A>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.206-12A>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.198+5005A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.199-12A>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.199-12A>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.199-12A>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.198+5005A>G
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8779
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/14-91952088-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91952088
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91952088
    reference: chr 14
allele count: 1
allele frequency: 8.478456242687331e-6
allele num: 117946
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.198+5003T>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.199-14T>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.199-14T>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.198+5003T>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.199-14T>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.198+5003T>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.206-14T>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.199-14T>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.199-14T>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.199-14T>G
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44578
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

14-91952092-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91952092
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91952092
    reference: chr 14
allele count: 2
allele frequency: 1.699379726399864e-5
allele num: 117690
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.199-18C>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.198+4999C>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.199-18C>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.198+4999C>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.206-18C>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.199-18C>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.199-18C>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.198+4999C>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.199-18C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.199-18C>T
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8445
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

14-91952097-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91952097
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91952097
    reference: chr 14
allele count: 1
allele frequency: 8.506873553831496e-6
allele num: 117552
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.199-23A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.199-23A>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.198+4994A>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.199-23A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.199-23A>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.206-23A>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.198+4994A>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.199-23A>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.198+4994A>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.199-23A>G
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37410
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5623
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40373
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2310
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

14-91952097-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91952097
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91952097
    reference: chr 14
allele count: 1
allele frequency: 8.506873553831496e-6
allele num: 117552
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.199-23A>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.199-23A>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.198+4994A>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.198+4994A>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.206-23A>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.198+4994A>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.199-23A>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.199-23A>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.199-23A>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.199-23A>C
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5623
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

14-91952100-ATGAT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91952100
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91952096
    reference: chr 14
allele count: 3
allele frequency: 2.554408909778277e-5
allele num: 117444
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.198+4987_198+4990delATCA
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.199-30_199-27delATCA
  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.199-30_199-27delATCA
  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.199-30_199-27delATCA
  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.198+4987_198+4990delATCA
  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.198+4987_198+4990delATCA
  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.206-30_206-27delATCA
  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.199-30_199-27delATCA
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.199-30_199-27delATCA
  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.199-30_199-27delATCA
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6471
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3441
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38334
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: ATGAT
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

14-91952110-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91952110
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91952110
    reference: chr 14
allele count: 2
allele frequency: 1.708963513628984e-5
allele num: 117030
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.199-36A>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.199-36A>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.199-36A>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.198+4981A>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.206-36A>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.199-36A>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.199-36A>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.198+4981A>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.198+4981A>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.199-36A>T
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7376
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7769
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8865
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30391
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

14-91952121-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91952121
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91952121
    reference: chr 14
allele count: 1
allele frequency: 8.626341396087092e-6
allele num: 115924
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.199-47T>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.198+4970T>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.199-47T>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.206-47T>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.199-47T>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.198+4970T>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.199-47T>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.198+4970T>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.199-47T>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.199-47T>A
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7697
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13598
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

14-91952125-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91952125
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91952125
    reference: chr 14
allele count: 4
allele frequency: 3.492229788720098e-5
allele num: 114540
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.206-51C>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.198+4966C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.199-51C>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.198+4966C>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.199-51C>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.199-51C>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.198+4966C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.199-51C>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.199-51C>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.199-51C>T
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7657
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13524
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25218
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7299
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum

14-91957052-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91957052
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91957052
    reference: chr 14
allele count: 101
allele frequency: 9.563126100706346e-4
allele num: 105614
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.198+39C>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.198+39C>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.198+39C>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.198+39C>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.198+39C>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.198+39C>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.198+39C>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.198+39C>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.198+39C>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.205+39C>G
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14135
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 17397
  bin: 2.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 4674
  bin: 2.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6026
  bin: 1.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7223
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7520
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

14-91957058-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91957058
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91957058
    reference: chr 14
allele count: 97
allele frequency: 9.093295335233238e-4
allele num: 106672
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.198+33A>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.198+33A>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.198+33A>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.198+33A>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.198+33A>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.198+33A>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.205+33A>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.198+33A>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.198+33A>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.198+33A>C
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 3680
  bin: 1.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 22277
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 11464
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6982
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22640
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2952
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 1
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

14-91957059-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91957059
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91957059
    reference: chr 14
allele count: 2
allele frequency: 1.872028155303456e-5
allele num: 106836
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.198+32T>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.198+32T>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.198+32T>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.198+32T>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.198+32T>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.198+32T>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.198+32T>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.198+32T>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.205+32T>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.198+32T>A
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5198
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3331
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10912
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6915
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7280
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

14-91957069-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91957069
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91957069
    reference: chr 14
allele count: 1
allele frequency: 9.114607069289243e-6
allele num: 109714
alternate allele: G
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.205+22T>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.198+22T>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.198+22T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.198+22T>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.198+22T>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.198+22T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.198+22T>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.198+22T>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.198+22T>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.198+22T>C
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6243
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5617
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/14-91957077-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91957077
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91957077
    reference: chr 14
allele count: 2
allele frequency: 1.782086466835371e-5
allele num: 112228
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.198+14G>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.198+14G>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.198+14G>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.198+14G>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.198+14G>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.198+14G>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.198+14G>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.198+14G>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.205+14G>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.198+14G>T
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3866
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6924
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/14-91957080-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91957080
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91957080
    reference: chr 14
allele count: 1
allele frequency: 8.854572501239641e-6
allele num: 112936
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.198+11G>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.198+11G>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.198+11G>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.198+11G>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.198+11G>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.198+11G>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.198+11G>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.198+11G>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.198+11G>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.205+11G>T
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4072
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3344
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

14-91957088-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91957088
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91957088
    reference: chr 14
allele count: 1
allele frequency: 8.716875871687587e-6
allele num: 114720
alternate allele: C
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.205+3A>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.198+3A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.198+3A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.198+3A>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.198+3A>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.198+3A>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.198+3A>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.198+3A>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.198+3A>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.198+3A>G
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
hgvs: c.198+3A>G
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum

14-91957106-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91957106
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91957106
    reference: chr 14
allele count: 1
allele frequency: 8.523405270873819e-6
allele num: 117324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.183A>T
  hgvsp: ENST00000428424.2:c.183A>T(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.183A>T
  hgvsp: ENST00000555462.1:c.183A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.183A>T
  hgvsp: ENST00000557018.1:c.183A>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.183A>T
  hgvsp: ENST00000337238.4:c.183A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.183A>T
  hgvsp: ENST00000554511.1:c.183A>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.183A>T
  hgvsp: ENST00000554943.1:c.183A>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.183A>T
  hgvsp: ENST00000554684.1:c.183A>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.190A>T
  hgvsp: ENST00000554308.1:c.190A>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.183A>T
  hgvsp: ENST00000555029.1:c.183A>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.183A>T
  hgvsp: ENST00000554390.1:c.183A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala61Ala
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ

14-91957110-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91957110
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91957110
    reference: chr 14
allele count: 1
allele frequency: 8.502678343678259e-6
allele num: 117610
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.179C>T
  hgvsp: ENSP00000450891.1:p.Thr60Ile
  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.179C>T
  hgvsp: ENSP00000452257.1:p.Thr60Ile
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.179C>T
  hgvsp: ENSP00000450432.1:p.Thr60Ile
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.179C>T
  hgvsp: ENSP00000451939.1:p.Thr60Ile
  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.179C>T
  hgvsp: ENSP00000337125.4:p.Thr60Ile
  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.179C>T
  hgvsp: ENSP00000450864.1:p.Thr60Ile
  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.179C>T
  hgvsp: ENSP00000450883.1:p.Thr60Ile
  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.179C>T
  hgvsp: ENSP00000392704.2:p.Thr60Ile
  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.186C>T
  hgvsp: ENSP00000450473.1:p.Thr63Ile
  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.179C>T
  hgvsp: ENSP00000452596.1:p.Thr60Ile
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8802
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr60Ile
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

14-91957112-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91957112
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91957112
    reference: chr 14
allele count: 1
allele frequency: 8.498342823149486e-6
allele num: 117670
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.177C>T
  hgvsp: ENST00000337238.4:c.177C>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.184C>T
  hgvsp: ENST00000554308.1:c.184C>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.177C>T
  hgvsp: ENST00000428424.2:c.177C>T(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.177C>T
  hgvsp: ENST00000555462.1:c.177C>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.177C>T
  hgvsp: ENST00000554684.1:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.177C>T
  hgvsp: ENST00000554511.1:c.177C>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.177C>T
  hgvsp: ENST00000554943.1:c.177C>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.177C>T
  hgvsp: ENST00000555029.1:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.177C>T
  hgvsp: ENST00000557018.1:c.177C>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.177C>T
  hgvsp: ENST00000554390.1:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn59Asn
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

14-91957127-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91957127
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91957127
    reference: chr 14
allele count: 1
allele frequency: 8.500943604740126e-6
allele num: 117634
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.162G>A
  hgvsp: ENST00000555029.1:c.162G>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.162G>A
  hgvsp: ENST00000554390.1:c.162G>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.162G>A
  hgvsp: ENST00000428424.2:c.162G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.162G>A
  hgvsp: ENST00000554511.1:c.162G>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.162G>A
  hgvsp: ENST00000554943.1:c.162G>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.162G>A
  hgvsp: ENST00000554684.1:c.162G>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.169G>A
  hgvsp: ENST00000554308.1:c.169G>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.162G>A
  hgvsp: ENST00000555462.1:c.162G>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.162G>A
  hgvsp: ENST00000337238.4:c.162G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.162G>A
  hgvsp: ENST00000557018.1:c.162G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser54Ser
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

14-91957135-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91957135
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91957135
    reference: chr 14
allele count: 2
allele frequency: 1.704884494075526e-5
allele num: 117310
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.154T>C
  hgvsp: ENST00000428424.2:c.154T>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.161T>C
  hgvsp: ENST00000554308.1:c.161T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.154T>C
  hgvsp: ENST00000557018.1:c.154T>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.154T>C
  hgvsp: ENST00000555462.1:c.154T>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.154T>C
  hgvsp: ENST00000554943.1:c.154T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.154T>C
  hgvsp: ENST00000554511.1:c.154T>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.154T>C
  hgvsp: ENST00000554390.1:c.154T>C(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.154T>C
  hgvsp: ENST00000555029.1:c.154T>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.154T>C
  hgvsp: ENST00000337238.4:c.154T>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.154T>C
  hgvsp: ENST00000554684.1:c.154T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1306
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu52Leu
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

14-91957155-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91957155
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91957155
    reference: chr 14
allele count: 29
allele frequency: 2.496470507213939e-4
allele num: 116164
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.143-9G>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.143-9G>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.143-9G>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.143-9G>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.143-9G>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.143-9G>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.143-9G>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.143-9G>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.150-9G>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.143-9G>A
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3700
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9638
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32281
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3427
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4164
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum

14-91957155-CAGAAAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91957155
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91957149
    reference: chr 14
allele count: 1
allele frequency: 8.608518990392892e-6
allele num: 116164
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450864
  ensembl transcript: ENST00000554684
  gene symbol: SMEK1
  hgvsc: ENST00000554684.1:c.143-15_143-10delTTTTCT
  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.143-15_143-10delTTTTCT
  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.143-15_143-10delTTTTCT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.143-15_143-10delTTTTCT
  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.143-15_143-10delTTTTCT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.143-15_143-10delTTTTCT
  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.143-15_143-10delTTTTCT
  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.150-15_150-10delTTTTCT
  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.143-15_143-10delTTTTCT
  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.143-15_143-10delTTTTCT
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3700
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7171
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: CAGAAAA
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

14-91957156-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91957156
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91957156
    reference: chr 14
allele count: 1
allele frequency: 8.604815254616483e-6
allele num: 116214
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.143-10T>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.143-10T>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.143-10T>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.150-10T>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.143-10T>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.143-10T>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.143-10T>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.143-10T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.143-10T>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.143-10T>C
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3697
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2476
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3452
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

14-91957157-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91957157
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91957157
    reference: chr 14
allele count: 4
allele frequency: 3.443466882457258e-5
allele num: 116162
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.143-11C>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.143-11C>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.143-11C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.143-11C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.143-11C>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.143-11C>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.143-11C>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.143-11C>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.150-11C>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.143-11C>T
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3696
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9686
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37084
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

14-91957166-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91957166
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91957166
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 115402
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.143-20T>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.143-20T>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.143-20T>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.143-20T>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.143-20T>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.143-20T>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.143-20T>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.150-20T>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.143-20T>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.143-20T>A
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6479
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2843
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5538
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD

14-91957168-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91957168
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91957168
    reference: chr 14
allele count: 1
allele frequency: 8.68357068426537e-6
allele num: 115160
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.143-22A>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.143-22A>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.143-22A>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.150-22A>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.143-22A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.143-22A>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.143-22A>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.143-22A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.143-22A>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.143-22A>G
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8809
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2924
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27474
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7629
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3225
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

14-91957170-CATTAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91957170
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91957165
    reference: chr 14
allele count: 1
allele frequency: 8.701251239928301e-6
allele num: 114926
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.143-29_143-25delATAAT
  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.150-29_150-25delATAAT
  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.143-29_143-25delATAAT
  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.143-29_143-25delATAAT
  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.143-29_143-25delATAAT
  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.143-29_143-25delATAAT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.143-29_143-25delATAAT
  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.143-29_143-25delATAAT
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.143-29_143-25delATAAT
  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.143-29_143-25delATAAT
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26230
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8425
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3232
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: CATTAT
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

14-91957171-ATTATGTTACTGT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91957171
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91957159
    reference: chr 14
allele count: 2
allele frequency: 1.739009460211464e-5
allele num: 115008
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  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
  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
  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
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  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
  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
  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
  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
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8463
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8662
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6245
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: ATTATGTTACTGT
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

14-91957176-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91957176
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91957176
    reference: chr 14
allele count: 1
allele frequency: 8.718699867475763e-6
allele num: 114696
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.150-30C>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.143-30C>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.143-30C>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.143-30C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.143-30C>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.143-30C>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.143-30C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.143-30C>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.143-30C>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.143-30C>T
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5060
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3048
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

14-91957181-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91957181
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91957181
    reference: chr 14
allele count: 6
allele frequency: 5.248425472358293e-5
allele num: 114320
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.143-35A>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.143-35A>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.143-35A>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.143-35A>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.143-35A>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.150-35A>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.143-35A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.143-35A>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.143-35A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.143-35A>G
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7093
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8771
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11479
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3055
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

14-91957187-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91957187
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91957187
    reference: chr 14
allele count: 2
allele frequency: 1.758489106159987e-5
allele num: 113734
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.143-41T>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.143-41T>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.143-41T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.143-41T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.143-41T>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.150-41T>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.143-41T>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.143-41T>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.143-41T>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.143-41T>C
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15011
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5771
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11593
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13716
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6783
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2486
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

14-91957198-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91957198
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91957198
    reference: chr 14
allele count: 1
allele frequency: 8.996365468350786e-6
allele num: 111156
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.143-52T>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.143-52T>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.143-52T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.143-52T>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.143-52T>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.143-52T>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.143-52T>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.143-52T>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.143-52T>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.150-52T>C
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11367
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4026
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14496
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14610
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2021
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3261
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

14-91975804-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91975804
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91975804
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 23554
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.142+46C>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.142+46C>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.142+46C>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.142+46C>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.142+46C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.142+46C>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.142+46C>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.142+46C>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.142+46C>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.149+46C>T
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20886
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5505
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26376
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

14-91975806-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91975806
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91975806
    reference: chr 14
allele count: 1
allele frequency: 4.214430209035738e-5
allele num: 23728
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.142+44C>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.142+44C>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.149+44C>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.142+44C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.142+44C>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.142+44C>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.142+44C>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.142+44C>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.142+44C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.142+44C>T
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26619
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20649
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5569
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6662
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/14-91975816-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91975816
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91975816
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 25054
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.142+34G>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.142+34G>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.142+34G>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.149+34G>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.142+34G>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.142+34G>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.142+34G>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.142+34G>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.142+34G>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.142+34G>T
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16987
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29756
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23847
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS

14-91975817-T-TGCGAGGGTCCCGCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91975817
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91975831
    reference: chr 14
allele count: 1
allele frequency: 3.893171377404033e-5
allele num: 25686
alternate allele: TGCGAGGGTCCCGCC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  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
  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
  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
  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
  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
  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
  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
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16364
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6152
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2583
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25631
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3764
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

14-91975819-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91975819
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91975819
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 25858
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.142+31G>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.142+31G>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.142+31G>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.142+31G>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.142+31G>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.142+31G>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.149+31G>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.142+31G>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.142+31G>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.142+31G>C
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15473
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31128
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2580
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

14-91975820-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91975820
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91975820
    reference: chr 14
allele count: 1
allele frequency: 3.803149007378109e-5
allele num: 26294
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.142+30C>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.142+30C>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.142+30C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.142+30C>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.149+30C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.142+30C>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.142+30C>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.142+30C>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.142+30C>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.142+30C>T
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31907
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14582
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2703
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

14-91975822-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91975822
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91975822
    reference: chr 14
allele count: 1
allele frequency: 3.729116945107399e-5
allele num: 26816
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.149+28C>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.142+28C>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.142+28C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.142+28C>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.142+28C>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.142+28C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.142+28C>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.142+28C>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.142+28C>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.142+28C>T
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6335
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13788
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12067
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum

14-91975824-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91975824
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91975824
    reference: chr 14
allele count: 1
allele frequency: 3.658179689786362e-5
allele num: 27336
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.142+26C>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.142+26C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.142+26C>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.149+26C>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.142+26C>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.142+26C>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.142+26C>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.142+26C>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.142+26C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.142+26C>T
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6411
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32987
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13093
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29372
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11553
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum

14-91975825-TCCCGCCGCGCGG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91975825
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91975813
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 27618
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  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
  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
  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
  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
  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
  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
  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
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12763
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33201
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29753
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4820
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: TCCCGCCGCGCGG
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/14-91975827-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91975827
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91975827
    reference: chr 14
allele count: 2
allele frequency: 7.075638576381519e-5
allele num: 28266
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.142+23G>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.142+23G>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.142+23G>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.149+23G>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.142+23G>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.142+23G>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.142+23G>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.142+23G>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.142+23G>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.142+23G>T
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33815
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11875
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6547
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30670
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ

14-91975828-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91975828
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91975827
    reference: chr 14
allele count: 2
allele frequency: 7.002801120448179e-5
allele num: 28560
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.142+21delC
  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.142+21delC
  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.142+21delC
  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.142+21delC
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.142+21delC
  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.142+21delC
  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.142+21delC
  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.142+21delC
  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.149+21delC
  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.142+21delC
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11410
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6614
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34123
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31097
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2659
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: CG
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

14-91975830-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91975830
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91975830
    reference: chr 14
allele count: 1
allele frequency: 3.396277679663089e-5
allele num: 29444
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.142+20G>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.142+20G>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.149+20G>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.142+20G>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.142+20G>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.142+20G>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.142+20G>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.142+20G>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.142+20G>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.142+20G>C
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6778
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34411
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10729
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2702
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

14-91975831-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91975831
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91975831
    reference: chr 14
allele count: 1
allele frequency: 3.358409457281032e-5
allele num: 29776
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.142+19G>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.142+19G>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.142+19G>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.142+19G>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.142+19G>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.149+19G>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.142+19G>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.142+19G>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.142+19G>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.142+19G>A
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34622
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6800
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10362
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS

14-91975834-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91975834
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91975834
    reference: chr 14
allele count: 16
allele frequency: 5.159293176834773e-4
allele num: 31012
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.142+16C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.142+16C>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.149+16C>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.142+16C>T
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.142+16C>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.142+16C>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.142+16C>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.142+16C>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.142+16C>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.142+16C>T
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35066
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6872
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9346
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32449
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 1
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

14-91975835-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91975835
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91975835
    reference: chr 14
allele count: 3
allele frequency: 9.555357370365652e-5
allele num: 31396
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.142+15G>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.142+15G>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.142+15G>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.142+15G>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.142+15G>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.142+15G>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.142+15G>A
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.142+15G>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.149+15G>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.142+15G>A
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8915
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35125
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6992
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5845
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

14-91975840-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91975840
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91975840
    reference: chr 14
allele count: 3
allele frequency: 8.617222956281956e-5
allele num: 34814
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000337125
  ensembl transcript: ENST00000337238
  gene symbol: SMEK1
  hgvsc: ENST00000337238.4:c.142+10G>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.142+10G>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.142+10G>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.142+10G>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.142+10G>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.149+10G>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.142+10G>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.142+10G>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.142+10G>C
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.142+10G>C
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7081
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35545
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4515
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7067
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1812
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6649
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

14-91975846-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91975846
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91975846
    reference: chr 14
allele count: 330
allele frequency: 8.493771234428085e-3
allele num: 38852
alternate allele: C
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.142+4A>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.142+4A>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.142+4A>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.142+4A>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.142+4A>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.142+4A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.142+4A>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.142+4A>G
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.142+4A>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.149+4A>G
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3051
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5516
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 1.75e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7122
  bin: 1.25e1
  variant carriers: 178
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6117
  bin: 2.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35245
  bin: 7.5e0
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 7.75e1
  variant carriers: 3
hgvs: c.142+4A>G
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

14-91975854-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91975854
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91975854
    reference: chr 14
allele count: 2
allele frequency: 4.452557994567879e-5
allele num: 44918
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.138C>T
  hgvsp: ENST00000555029.1:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.138C>T
  hgvsp: ENST00000554511.1:c.138C>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.145C>T
  hgvsp: ENST00000554308.1:c.145C>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.138C>T
  hgvsp: ENST00000337238.4:c.138C>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.138C>T
  hgvsp: ENST00000554390.1:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.138C>T
  hgvsp: ENST00000557018.1:c.138C>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.138C>T
  hgvsp: ENST00000428424.2:c.138C>T(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.138C>T
  hgvsp: ENST00000555462.1:c.138C>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.138C>T
  hgvsp: ENST00000554943.1:c.138C>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.138C>T
  hgvsp: ENST00000554684.1:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7065
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33514
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser46Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

14-91975860-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91975860
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91975860
    reference: chr 14
allele count: 1
allele frequency: 1.992190612797833e-5
allele num: 50196
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.132T>C
  hgvsp: ENST00000428424.2:c.132T>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.132T>C
  hgvsp: ENST00000554943.1:c.132T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.132T>C
  hgvsp: ENST00000554511.1:c.132T>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.139T>C
  hgvsp: ENST00000554308.1:c.139T>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.132T>C
  hgvsp: ENST00000555462.1:c.132T>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.132T>C
  hgvsp: ENST00000337238.4:c.132T>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.132T>C
  hgvsp: ENST00000554390.1:c.132T>C(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.132T>C
  hgvsp: ENST00000555029.1:c.132T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.132T>C
  hgvsp: ENST00000557018.1:c.132T>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.132T>C
  hgvsp: ENST00000554684.1:c.132T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6919
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3465
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31875
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala44Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD

14-91975863-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91975863
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91975863
    reference: chr 14
allele count: 2
allele frequency: 3.762935089369708e-5
allele num: 53150
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.129G>A
  hgvsp: ENST00000555029.1:c.129G>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.129G>A
  hgvsp: ENST00000428424.2:c.129G>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.129G>A
  hgvsp: ENST00000554943.1:c.129G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.129G>A
  hgvsp: ENST00000554511.1:c.129G>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.129G>A
  hgvsp: ENST00000337238.4:c.129G>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.129G>A
  hgvsp: ENST00000555462.1:c.129G>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.129G>A
  hgvsp: ENST00000554390.1:c.129G>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.136G>A
  hgvsp: ENST00000554308.1:c.136G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.129G>A
  hgvsp: ENST00000557018.1:c.129G>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.129G>A
  hgvsp: ENST00000554684.1:c.129G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30714
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6951
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2906
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg43Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

14-91975874-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91975874
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91975874
    reference: chr 14
allele count: 1
allele frequency: 1.632386549134835e-5
allele num: 61260
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.118C>T
  hgvsp: ENST00000555029.1:c.118C>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.118C>T
  hgvsp: ENST00000428424.2:c.118C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.118C>T
  hgvsp: ENST00000557018.1:c.118C>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.118C>T
  hgvsp: ENST00000554943.1:c.118C>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.118C>T
  hgvsp: ENST00000554390.1:c.118C>T(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.118C>T
  hgvsp: ENST00000555462.1:c.118C>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.118C>T
  hgvsp: ENST00000337238.4:c.118C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.118C>T
  hgvsp: ENST00000554511.1:c.118C>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.125C>T
  hgvsp: ENST00000554308.1:c.125C>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.118C>T
  hgvsp: ENST00000554684.1:c.118C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6940
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15057
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27464
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu40Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

14-91975875-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91975875
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91975875
    reference: chr 14
allele count: 1
allele frequency: 1.617756495292328e-5
allele num: 61814
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000392704
  ensembl transcript: ENST00000428424
  gene symbol: SMEK1
  hgvsc: ENST00000428424.2:c.117C>T
  hgvsp: ENST00000428424.2:c.117C>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.117C>T
  hgvsp: ENST00000554943.1:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.117C>T
  hgvsp: ENST00000557018.1:c.117C>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.124C>T
  hgvsp: ENST00000554308.1:c.124C>T(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.117C>T
  hgvsp: ENST00000555462.1:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.117C>T
  hgvsp: ENST00000554511.1:c.117C>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.117C>T
  hgvsp: ENST00000554390.1:c.117C>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.117C>T
  hgvsp: ENST00000337238.4:c.117C>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.117C>T
  hgvsp: ENST00000554684.1:c.117C>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.117C>T
  hgvsp: ENST00000555029.1:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6992
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2122
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser39Ser
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD

14-91975876-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91975876
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91975876
    reference: chr 14
allele count: 5
allele frequency: 8.01693175987686e-5
allele num: 62368
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.116C>A
  hgvsp: ENSP00000450883.1:p.Ser39Tyr
  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.123C>A
  hgvsp: ENSP00000450473.1:p.Ser42Tyr
  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.116C>A
  hgvsp: ENSP00000452257.1:p.Ser39Tyr
  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.116C>A
  hgvsp: ENSP00000392704.2:p.Ser39Tyr
  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.116C>A
  hgvsp: ENSP00000452596.1:p.Ser39Tyr
  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.116C>A
  hgvsp: ENSP00000337125.4:p.Ser39Tyr
  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.116C>A
  hgvsp: ENSP00000450864.1:p.Ser39Tyr
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.116C>A
  hgvsp: ENSP00000450432.1:p.Ser39Tyr
  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.116C>A
  hgvsp: ENSP00000450891.1:p.Ser39Tyr
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.116C>A
  hgvsp: ENSP00000451939.1:p.Ser39Tyr
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7045
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26971
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2507
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser39Tyr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

14-91975881-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91975881
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91975881
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 65008
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450883
  ensembl transcript: ENST00000554943
  gene symbol: SMEK1
  hgvsc: ENST00000554943.1:c.111C>T
  hgvsp: ENST00000554943.1:c.111C>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.118C>T
  hgvsp: ENST00000554308.1:c.118C>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.111C>T
  hgvsp: ENST00000428424.2:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.111C>T
  hgvsp: ENST00000554511.1:c.111C>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.111C>T
  hgvsp: ENST00000554390.1:c.111C>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.111C>T
  hgvsp: ENST00000555029.1:c.111C>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.111C>T
  hgvsp: ENST00000554684.1:c.111C>T(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.111C>T
  hgvsp: ENST00000555462.1:c.111C>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.111C>T
  hgvsp: ENST00000337238.4:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.111C>T
  hgvsp: ENST00000557018.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25844
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7079
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly37Gly
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

14-91975889-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91975889
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91975889
    reference: chr 14
allele count: 4
allele frequency: 5.728361115884745e-5
allele num: 69828
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.110C>T
  hgvsp: ENST00000554308.1:c.110C>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.103C>T
  hgvsp: ENST00000554943.1:c.103C>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.103C>T
  hgvsp: ENST00000428424.2:c.103C>T(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.103C>T
  hgvsp: ENST00000555462.1:c.103C>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.103C>T
  hgvsp: ENST00000554684.1:c.103C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.103C>T
  hgvsp: ENST00000554511.1:c.103C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.103C>T
  hgvsp: ENST00000557018.1:c.103C>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.103C>T
  hgvsp: ENST00000337238.4:c.103C>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.103C>T
  hgvsp: ENST00000555029.1:c.103C>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.103C>T
  hgvsp: ENST00000554390.1:c.103C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3419
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23725
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7073
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4833
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu35Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

14-91975902-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91975902
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91975902
    reference: chr 14
allele count: 1
allele frequency: 1.253918495297806e-5
allele num: 79750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452257
  ensembl transcript: ENST00000555029
  gene symbol: SMEK1
  hgvsc: ENST00000555029.1:c.90C>T
  hgvsp: ENST00000555029.1:c.90C>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.90C>T
  hgvsp: ENST00000554390.1:c.90C>T(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.90C>T
  hgvsp: ENST00000555462.1:c.90C>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.97C>T
  hgvsp: ENST00000554308.1:c.97C>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.90C>T
  hgvsp: ENST00000554943.1:c.90C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.90C>T
  hgvsp: ENST00000557018.1:c.90C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.90C>T
  hgvsp: ENST00000554511.1:c.90C>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.90C>T
  hgvsp: ENST00000337238.4:c.90C>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.90C>T
  hgvsp: ENST00000554684.1:c.90C>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.90C>T
  hgvsp: ENST00000428424.2:c.90C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6464
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly30Gly
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

14-91975909-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91975909
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91975909
    reference: chr 14
allele count: 1
allele frequency: 1.201518719661652e-5
allele num: 83228
alternate allele: A
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.90C>T
  hgvsp: ENSP00000450473.1:p.Ser31Leu
  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.83C>T
  hgvsp: ENSP00000452596.1:p.Ser28Leu
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.83C>T
  hgvsp: ENSP00000450432.1:p.Ser28Leu
  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.83C>T
  hgvsp: ENSP00000450891.1:p.Ser28Leu
  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.83C>T
  hgvsp: ENSP00000450883.1:p.Ser28Leu
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.83C>T
  hgvsp: ENSP00000451939.1:p.Ser28Leu
  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.83C>T
  hgvsp: ENSP00000337125.4:p.Ser28Leu
  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.83C>T
  hgvsp: ENSP00000392704.2:p.Ser28Leu
  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.83C>T
  hgvsp: ENSP00000450864.1:p.Ser28Leu
  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.83C>T
  hgvsp: ENSP00000452257.1:p.Ser28Leu
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6252
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17546
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3437
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26431
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser28Leu
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

14-91975920-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91975920
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91975920
    reference: chr 14
allele count: 1
allele frequency: 1.151490028096357e-5
allele num: 86844
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.72C>A
  hgvsp: ENST00000337238.4:c.72C>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.72C>A
  hgvsp: ENST00000554943.1:c.72C>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.72C>A
  hgvsp: ENST00000554684.1:c.72C>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.72C>A
  hgvsp: ENST00000555029.1:c.72C>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.72C>A
  hgvsp: ENST00000555462.1:c.72C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.72C>A
  hgvsp: ENST00000557018.1:c.72C>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.72C>A
  hgvsp: ENST00000554390.1:c.72C>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.72C>A
  hgvsp: ENST00000428424.2:c.72C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.72C>A
  hgvsp: ENST00000554511.1:c.72C>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.79C>A
  hgvsp: ENST00000554308.1:c.79C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23494
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15621
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3977
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 3.25e1
  variant carriers: 1
hgvs: p.Thr24Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum

14-91975943-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91975943
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91975943
    reference: chr 14
allele count: 6
allele frequency: 6.159911297277319e-5
allele num: 97404
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.49C>A
  hgvsp: ENST00000428424.2:c.49C>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.49C>A
  hgvsp: ENST00000337238.4:c.49C>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.49C>A
  hgvsp: ENST00000554943.1:c.49C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.49C>A
  hgvsp: ENST00000557018.1:c.49C>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.49C>A
  hgvsp: ENST00000554684.1:c.49C>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.49C>A
  hgvsp: ENST00000555462.1:c.49C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.49C>A
  hgvsp: ENST00000554511.1:c.49C>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.49C>A
  hgvsp: ENST00000555029.1:c.49C>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.56C>A
  hgvsp: ENST00000554308.1:c.56C>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.49C>A
  hgvsp: ENST00000554390.1:c.49C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9488
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10615
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5024
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29975
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg17Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

14-91975944-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91975944
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91975944
    reference: chr 14
allele count: 191
allele frequency: 1.950810965396086e-3
allele num: 97908
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.48C>T
  hgvsp: ENST00000554511.1:c.48C>T(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.48C>T
  hgvsp: ENST00000555462.1:c.48C>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.48C>T
  hgvsp: ENST00000428424.2:c.48C>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.48C>T
  hgvsp: ENST00000337238.4:c.48C>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.55C>T
  hgvsp: ENST00000554308.1:c.55C>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.48C>T
  hgvsp: ENST00000554390.1:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.48C>T
  hgvsp: ENST00000557018.1:c.48C>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.48C>T
  hgvsp: ENST00000554684.1:c.48C>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.48C>T
  hgvsp: ENST00000554943.1:c.48C>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.48C>T
  hgvsp: ENST00000555029.1:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4977
  bin: 1.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 30323
  bin: 2.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 10443
  bin: 7.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 3.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 3.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 9513
  bin: 2.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 1.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp16Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

14-91975953-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91975953
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91975953
    reference: chr 14
allele count: 1
allele frequency: 1.007008781116571e-5
allele num: 99304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.39C>T
  hgvsp: ENST00000554511.1:c.39C>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.39C>T
  hgvsp: ENST00000554943.1:c.39C>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.39C>T
  hgvsp: ENST00000555029.1:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.39C>T
  hgvsp: ENST00000557018.1:c.39C>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.39C>T
  hgvsp: ENST00000428424.2:c.39C>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.39C>T
  hgvsp: ENST00000554684.1:c.39C>T(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.39C>T
  hgvsp: ENST00000555462.1:c.39C>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.46C>T
  hgvsp: ENST00000554308.1:c.46C>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.39C>T
  hgvsp: ENST00000554390.1:c.39C>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.39C>T
  hgvsp: ENST00000337238.4:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30678
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9687
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu13Leu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

14-91975955-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91975955
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91975955
    reference: chr 14
allele count: 1
allele frequency: 1.007292799871066e-5
allele num: 99276
alternate allele: A
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.44C>T
  hgvsp: ENSP00000450473.1:p.Leu16Phe
  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.37C>T
  hgvsp: ENSP00000450864.1:p.Leu13Phe
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.37C>T
  hgvsp: ENSP00000450432.1:p.Leu13Phe
  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.37C>T
  hgvsp: ENSP00000452596.1:p.Leu13Phe
  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.37C>T
  hgvsp: ENSP00000450891.1:p.Leu13Phe
  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.37C>T
  hgvsp: ENSP00000337125.4:p.Leu13Phe
  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.37C>T
  hgvsp: ENSP00000450883.1:p.Leu13Phe
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.37C>T
  hgvsp: ENSP00000451939.1:p.Leu13Phe
  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.37C>T
  hgvsp: ENSP00000392704.2:p.Leu13Phe
  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.37C>T
  hgvsp: ENSP00000452257.1:p.Leu13Phe
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9666
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5580
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu13Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS

14-91975956-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91975956
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91975956
    reference: chr 14
allele count: 9
allele frequency: 9.080086361710285e-5
allele num: 99118
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000452596
  ensembl transcript: ENST00000554390
  gene symbol: SMEK1
  hgvsc: ENST00000554390.1:c.36G>C
  hgvsp: ENST00000554390.1:c.36G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.36G>C
  hgvsp: ENST00000554511.1:c.36G>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.36G>C
  hgvsp: ENST00000554684.1:c.36G>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.36G>C
  hgvsp: ENST00000555462.1:c.36G>C(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.36G>C
  hgvsp: ENST00000428424.2:c.36G>C(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.36G>C
  hgvsp: ENST00000555029.1:c.36G>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.36G>C
  hgvsp: ENST00000337238.4:c.36G>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.43G>C
  hgvsp: ENST00000554308.1:c.43G>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.36G>C
  hgvsp: ENST00000554943.1:c.36G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.36G>C
  hgvsp: ENST00000557018.1:c.36G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5776
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9672
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29758
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9833
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr12Thr
num of homozygotes: 1
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

14-91975957-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91975957
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91975957
    reference: chr 14
allele count: 1
allele frequency: 1.010080604432234e-5
allele num: 99002
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450891
  ensembl transcript: ENST00000555462
  gene symbol: SMEK1
  hgvsc: ENST00000555462.1:c.35C>T
  hgvsp: ENSP00000450891.1:p.Thr12Met
  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.35C>T
  hgvsp: ENSP00000392704.2:p.Thr12Met
  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.35C>T
  hgvsp: ENSP00000452596.1:p.Thr12Met
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.35C>T
  hgvsp: ENSP00000451939.1:p.Thr12Met
  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.35C>T
  hgvsp: ENSP00000452257.1:p.Thr12Met
  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.35C>T
  hgvsp: ENSP00000450883.1:p.Thr12Met
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.35C>T
  hgvsp: ENSP00000450432.1:p.Thr12Met
  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.42C>T
  hgvsp: ENSP00000450473.1:p.Thr15Met
  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.35C>T
  hgvsp: ENSP00000337125.4:p.Thr12Met
  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.35C>T
  hgvsp: ENSP00000450864.1:p.Thr12Met
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9661
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6058
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9871
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr12Met
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

14-91975962-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91975962
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91975962
    reference: chr 14
allele count: 3
allele frequency: 3.064413981899528e-5
allele num: 97898
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.30G>A
  hgvsp: ENST00000428424.2:c.30G>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.30G>A
  hgvsp: ENST00000555029.1:c.30G>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.30G>A
  hgvsp: ENST00000555462.1:c.30G>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.30G>A
  hgvsp: ENST00000554943.1:c.30G>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.30G>A
  hgvsp: ENST00000554390.1:c.30G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.30G>A
  hgvsp: ENST00000554511.1:c.30G>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.30G>A
  hgvsp: ENST00000554684.1:c.30G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.30G>A
  hgvsp: ENST00000557018.1:c.30G>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.30G>A
  hgvsp: ENST00000337238.4:c.30G>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.37G>A
  hgvsp: ENST00000554308.1:c.37G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9849
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7865
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26121
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14687
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val10Val
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

14-91975973-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 91975973
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 91975973
    reference: chr 14
allele count: 2
allele frequency: 2.074043347505963e-5
allele num: 96430
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.19C>A
  hgvsp: ENST00000337238.4:c.19C>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.19C>A
  hgvsp: ENST00000554390.1:c.19C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000451939
  ensembl transcript: ENST00000554511
  gene symbol: SMEK1
  hgvsc: ENST00000554511.1:c.19C>A
  hgvsp: ENST00000554511.1:c.19C>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.26C>A
  hgvsp: ENST00000554308.1:c.26C>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.19C>A
  hgvsp: ENST00000555029.1:c.19C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100796
  ensembl protein: ENSP00000450432
  ensembl transcript: ENST00000557018
  gene symbol: SMEK1
  hgvsc: ENST00000557018.1:c.19C>A
  hgvsp: ENST00000557018.1:c.19C>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.19C>A
  hgvsp: ENST00000554943.1:c.19C>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.19C>A
  hgvsp: ENST00000428424.2:c.19C>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.19C>A
  hgvsp: ENST00000555462.1:c.19C>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.19C>A
  hgvsp: ENST00000554684.1:c.19C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20219
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9869
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg7Arg
num of homozygotes: 0
reference allele: G

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

GenotypeQuality
all individuals: 313
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 864
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3669
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2956
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 998
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 950
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45380
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 828
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2125
bin: 9.75e1
variant carriers: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16228
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11296
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8358
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.004008016032064e-4
allele num: 9980
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64756
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

QD
type: SiteQuality
SIO_000300: 1.715e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e0

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.094e0

DP
type: SiteQuality
SIO_000300: 1.420836e6

GenotypeQuality
all individuals: 212
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3230
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1212
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 864
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 539
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 985
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3668
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9966
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.545356204605162e-5
allele num: 64710
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8352
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16222
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.763e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

VQSLOD
type: SiteQuality
SIO_000300: -2.766e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

FS
type: SiteQuality
SIO_000300: 7.478e0

DP
type: SiteQuality
SIO_000300: 1.412893e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.04e-1

GenotypeQuality
all individuals: 537
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1422
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41204
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1950
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3919
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1140
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3485
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2125
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 405
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 939
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9964
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.099717925668764e-5
allele num: 64522
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11258
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.361e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.389999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.796e0

QD
type: SiteQuality
SIO_000300: 2.694e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.188e0

MQRankSum
type: SiteQuality
SIO_000300: -1.52e-1

DP
type: SiteQuality
SIO_000300: 1.391898e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

GenotypeQuality
all individuals: 535
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1354
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3466
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2124
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 442
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4283
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 941
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1624
bin: 2.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551879325863621e-5
allele num: 64438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9954
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8306
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16206
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.306e0

QD
type: SiteQuality
SIO_000300: 1.09e1

VQSLOD
type: SiteQuality
SIO_000300: 3.05e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-1

DP
type: SiteQuality
SIO_000300: 1.380949e6

GenotypeQuality
all individuals: 71
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2310
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4283
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2124
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 820
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1354
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 941
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40373
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3466
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1624
bin: 2.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9954
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16206
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551879325863621e-5
allele num: 64438
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8306
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

QD
type: SiteQuality
SIO_000300: 1.09e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.380949e6

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

VQSLOD
type: SiteQuality
SIO_000300: 3.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.306e0

GenotypeQuality
all individuals: 572
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 541
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1778
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1927
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4703
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2920
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2125
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 240
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 925
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16204
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11234
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9944
num of homozygotes: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.620564808110065e-4
allele num: 8286
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64378
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.49e-1

FS
type: SiteQuality
SIO_000300: 4.607e0

MQ
type: SiteQuality
SIO_000300: 5.459e1

MQRankSum
type: SiteQuality
SIO_000300: -1.478e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.36378e6

QD
type: SiteQuality
SIO_000300: 1.407e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

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

GenotypeQuality
all individuals: 2125
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4559
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3218
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3482
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 905
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5369
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1222
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32645
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 803
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1176
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2652
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16170
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.119054302735411e-5
allele num: 64122
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8234
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9918
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11200
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

QD
type: SiteQuality
SIO_000300: 1.326e1

VQSLOD
type: SiteQuality
SIO_000300: 2.8e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.34e-1

DP
type: SiteQuality
SIO_000300: 1.325283e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.29e0

GenotypeQuality
all individuals: 789
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6455
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3109
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5141
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2786
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2125
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6073
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1866
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4869
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20463
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3301
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11102
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8112
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.209637357178341e-5
allele num: 16104
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63370
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.100000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 3.222e0

QD
type: SiteQuality
SIO_000300: 1.147e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.47e-1

DP
type: SiteQuality
SIO_000300: 1.292782e6

GenotypeQuality
all individuals: 16450
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6257
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 763
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2514
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 2.5e0
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GenotypeQuality
all individuals: 6567
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3859
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3004
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3621
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4685
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2128
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 6058
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10978
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.251877816725087e-4
allele num: 7988
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6458
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15990
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.799385678633135e-5
allele num: 62508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 6.349e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.387e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.298734e6

QD
type: SiteQuality
SIO_000300: 1.242e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.32e-1

GenotypeQuality
all individuals: 6191
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5349
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2284
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 839
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3331
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 364
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2099
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 983
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 868
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2547
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17655
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7228
bin: 9.75e1
variant carriers: 101

GenotypeQuality
all individuals: 1162
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.959247648902821e-4
allele num: 10208
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14788
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7442
num of homozygotes: 0

African
type: Population
allele count: 99
allele frequency: 1.04276385085317e-2
allele num: 9494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6226
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56648
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.98e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.334e0

DP
type: SiteQuality
SIO_000300: 1.368864e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.72e-1

QD
type: SiteQuality
SIO_000300: 1.464e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.56e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-1

GenotypeQuality
all individuals: 144
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 933
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3823
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1225
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1335
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7330
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2769
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 990
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5176
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1193
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7220
bin: 9.75e1
variant carriers: 93

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.221811073099211e-4
allele num: 57292
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6260
num of homozygotes: 0

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

African
type: Population
allele count: 89
allele frequency: 9.30378423583525e-3
allele num: 9566
num of homozygotes: 1

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

South Asian
type: Population
allele count: 1
allele frequency: 6.721333512568894e-5
allele num: 14878
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.934e1

VQSLOD
type: SiteQuality
SIO_000300: 2.02e0

FS
type: SiteQuality
SIO_000300: 2.472e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.35e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.94e0

QD
type: SiteQuality
SIO_000300: 1.507e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.75e-1

DP
type: SiteQuality
SIO_000300: 1.413257e6

MQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

GenotypeQuality
all individuals: 941
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 849
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1099
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3580
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2813
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1193
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4935
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 622
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1203
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 997
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7148
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 489
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2855
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23669
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6270
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7578
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14892
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.485535029627048e-5
allele num: 57380
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.442e1

MQRankSum
type: SiteQuality
SIO_000300: 4.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

DP
type: SiteQuality
SIO_000300: 1.421021e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.32e0

FS
type: SiteQuality
SIO_000300: 1.65e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.44e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

GenotypeQuality
all individuals: 496
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31240
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1866
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7149
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6030
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 7.5e0
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GenotypeQuality
all individuals: 1255
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2852
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1022
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3119
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1621
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7846
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10612
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15134
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.689075062495777e-5
allele num: 59204
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.506e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 4.869e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.67e-1

DP
type: SiteQuality
SIO_000300: 1.500575e6

GenotypeQuality
all individuals: 491
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 927
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1034
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 371
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variant carriers: 0

GenotypeQuality
all individuals: 35264
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variant carriers: 0

GenotypeQuality
all individuals: 1709
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 848
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variant carriers: 0

GenotypeQuality
all individuals: 1297
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4800
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1277
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1027
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3286
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7151
bin: 9.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6398
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9866
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15352
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.289690111191525e-5
allele num: 60796
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.4762e1

MQRankSum
type: SiteQuality
SIO_000300: -8.120000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.548908e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.832e0

QD
type: SiteQuality
SIO_000300: 1.319e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.78e-1

GenotypeQuality
all individuals: 35731
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1032
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1155
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1265
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1478
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7150
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4443
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3340
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8152
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10934
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 6.476683937823834e-5
allele num: 15440
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QD
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VQSLOD
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MQRankSum
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FS
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ReadPosRankSum
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SIO_000300: -4.71e-1

InbreedingCoeff
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SIO_000300: 1.0e-4

MQ
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SIO_000300: 5.866e1

BaseQRankSum
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SIO_000300: -1.739e0

DP
type: SiteQuality
SIO_000300: 1.560921e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.86e-1

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.603386351975372e-5
allele num: 62368
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East Asian
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allele frequency: 0.0e0
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MQ
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InbreedingCoeff
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FS
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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VQSLOD
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QD
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 63996
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African
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ReadPosRankSum
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VQSLOD
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MQRankSum
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QD
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DP
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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MQ
type: SiteQuality
SIO_000300: 5.942e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.557826520438684e-5
allele num: 64192
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11322
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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VQSLOD
type: SiteQuality
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QD
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MQRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
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SIO_000300: -9.03e-1

FS
type: SiteQuality
SIO_000300: 1.697e0

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8470
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6538
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64224
num of homozygotes: 0

Latino
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African
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allele num: 10156
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Other
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ReadPosRankSum
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SIO_000300: 1.49e0

DP
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FS
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MQRankSum
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VQSLOD
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QD
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MQ
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.557292802192668e-5
allele num: 64214
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European (Finnish)
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allele num: 6532
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Other
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Latino
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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MQ
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DP
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FS
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QD
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 1.77210703526493e-4
allele num: 11286
num of homozygotes: 0

Other
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African
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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East Asian
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InbreedingCoeff
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MQRankSum
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DP
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FS
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MQ
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QD
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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African
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East Asian
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Latino
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South Asian
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Other
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MQ
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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DP
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MQRankSum
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InbreedingCoeff
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QD
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FS
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1244
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15914
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8350
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11178
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.948269001193792e-5
allele num: 10052
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63282
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.599412e6

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-1

FS
type: SiteQuality
SIO_000300: 2.353e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.779e0

VQSLOD
type: SiteQuality
SIO_000300: 3.06e0

MQ
type: SiteQuality
SIO_000300: 5.929e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

QD
type: SiteQuality
SIO_000300: 1.083e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

GenotypeQuality
all individuals: 980
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10054
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63324
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.279829188646068e-5
allele num: 15924
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8350
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.68e-1

FS
type: SiteQuality
SIO_000300: 7.793e0

DP
type: SiteQuality
SIO_000300: 1.598821e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.717e0

QD
type: SiteQuality
SIO_000300: 7.39e0

MQ
type: SiteQuality
SIO_000300: 5.867e1

GenotypeQuality
all individuals: 491
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
all individuals: 1018
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.788908765652952e-4
allele num: 11180
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.15955766192733e-5
allele num: 63300
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10042
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8340
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

QD
type: SiteQuality
SIO_000300: 9.699999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 5.629999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.29e-1

DP
type: SiteQuality
SIO_000300: 1.600553e6

VQSLOD
type: SiteQuality
SIO_000300: 7.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3361
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1026
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62856
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15842
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8242
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10000
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11110
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

VQSLOD
type: SiteQuality
SIO_000300: 5.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.559172e6

MQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

QD
type: SiteQuality
SIO_000300: 1.056e1

GenotypeQuality
all individuals: 7145
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1954
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variant carriers: 0

GenotypeQuality
all individuals: 5961
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11084
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62710
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8226
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.320313487548983e-5
allele num: 15822
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.832e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.94e-1

DP
type: SiteQuality
SIO_000300: 1.542413e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.62e0

FS
type: SiteQuality
SIO_000300: 5.326e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.73e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.774999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.77e-1

QD
type: SiteQuality
SIO_000300: 1.234e1

GenotypeQuality
all individuals: 6204
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 30000
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8206
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62580
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6452
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9958
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.337135614702154e-5
allele num: 15780
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.531161e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.139e0

MQ
type: SiteQuality
SIO_000300: 4.995e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

MQRankSum
type: SiteQuality
SIO_000300: -3.17e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.259e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.99e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
all individuals: 488
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.80635838150289e-4
allele num: 11072
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8212
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15792
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9964
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62626
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.248e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

MQ
type: SiteQuality
SIO_000300: 5.418e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.25e-1

FS
type: SiteQuality
SIO_000300: 1.421e0

QD
type: SiteQuality
SIO_000300: 2.95e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.23e-1

DP
type: SiteQuality
SIO_000300: 1.529743e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.601794009290405e-5
allele num: 62430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9928
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11046
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6452
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.441e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -6.68e-1

DP
type: SiteQuality
SIO_000300: 1.495445e6

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6434
num of homozygotes: 0

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

African
type: Population
allele count: 6
allele frequency: 6.064281382656155e-4
allele num: 9894
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8144
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11022
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62200
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.341e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.262e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.66e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.15e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.35e0

DP
type: SiteQuality
SIO_000300: 1.458739e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9854
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61828
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6430
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.823819077147547e-4
allele num: 10966
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15686
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -3.274e0

InbreedingCoeff
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SIO_000300: 3.8e-3

ClippingRankSum
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FS
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SIO_000300: 9.358000000000001e0

ReadPosRankSum
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MQRankSum
type: SiteQuality
SIO_000300: -2.971e0

BaseQRankSum
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SIO_000300: 3.03e0

DP
type: SiteQuality
SIO_000300: 1.424828e6

MQ
type: SiteQuality
SIO_000300: 5.395e1

QD
type: SiteQuality
SIO_000300: 1.617e1

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10642
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7808
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.657495193263939e-5
allele num: 60332
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9696
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6360
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15456
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.408649e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.31e-1

QD
type: SiteQuality
SIO_000300: 4.54e0

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1774
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 330
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1112
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10188
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.27e-2

QD
type: SiteQuality
SIO_000300: 2.647e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.418e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.72e-1

DP
type: SiteQuality
SIO_000300: 4.78477e5

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1354
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1800
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1108
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 332
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 4.82486e5

QD
type: SiteQuality
SIO_000300: 2.965e1

VQSLOD
type: SiteQuality
SIO_000300: -1.918e0

MQRankSum
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SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.74e-1

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.108e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.26e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1512
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1254
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 11030
num of homozygotes: 0

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

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

InbreedingCoeff
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DP
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
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FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

South Asian
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allele num: 8808
num of homozygotes: 0

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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MQRankSum
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DP
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ReadPosRankSum
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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East Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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ClippingRankSum
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MQRankSum
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MQ
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BaseQRankSum
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FS
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DP
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1640
num of homozygotes: 0

European (Finnish)
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allele count: 0
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Other
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allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 8.499065102838688e-5
allele num: 11766
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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DP
type: SiteQuality
SIO_000300: 5.36901e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

MQRankSum
type: SiteQuality
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QD
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

East Asian
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allele frequency: 0.0e0
allele num: 1418
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 12036
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 2100
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.121327651939897e-4
allele num: 8918
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 430
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

InbreedingCoeff
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FS
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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MQ
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
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SIO_000300: -1.43e-1

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

African
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allele frequency: 0.0e0
allele num: 2142
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 8.103727714748784e-5
allele num: 12340
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1760
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 452
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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QD
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ClippingRankSum
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ReadPosRankSum
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FS
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BaseQRankSum
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MQ
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.50628e5

MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 12508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1520
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 460
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2176
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8946
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1798
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.231e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.3e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.5354e5

MQ
type: SiteQuality
SIO_000300: 4.996e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.27e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8984
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1878
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1586
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.444444444444445e-4
allele num: 2250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.7724234416291e-5
allele num: 12866
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.154e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.16e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

DP
type: SiteQuality
SIO_000300: 5.62036e5

VQSLOD
type: SiteQuality
SIO_000300: -1.651e0

QD
type: SiteQuality
SIO_000300: 5.55e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2274
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1916
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9010
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 2
allele frequency: 1.251564455569462e-3
allele num: 1598
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 13044
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

BaseQRankSum
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SIO_000300: 7.31e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.13e-2

QD
type: SiteQuality
SIO_000300: 1.565e1

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

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

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

Latino
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allele frequency: 5.045408678102926e-4
allele num: 1982
num of homozygotes: 0

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

Latino
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East Asian
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European (Non-Finnish)
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allele frequency: 7.273785277858598e-5
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num of homozygotes: 0

South Asian
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African
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Other
type: Population
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DP
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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QD
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MQ
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 15

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele num: 9228
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Other
type: Population
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 14458
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2496
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1802
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2174
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.371e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

FS
type: SiteQuality
SIO_000300: 7.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.79e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.41e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.76e-1

DP
type: SiteQuality
SIO_000300: 5.92048e5

GenotypeQuality
all individuals: 308
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8286
bin: 7.5e0
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GenotypeQuality
all individuals: 2834
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1041
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1487
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 5.25e1
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GenotypeQuality
all individuals: 140
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1996
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1076
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 32569
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 1.623376623376623e-3
allele num: 1848
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14662
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2554
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2210
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9246
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.172e1

FS
type: SiteQuality
SIO_000300: 1.606e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.83e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.46e0

MQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.67e0

DP
type: SiteQuality
SIO_000300: 5.98117e5

GenotypeQuality
all individuals: 6933
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1144
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 7.75e1
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GenotypeQuality
all individuals: 2846
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1146
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
all individuals: 339
bin: 2.5e0
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GenotypeQuality
all individuals: 1175
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 313
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16652
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 1.006711409395973e-3
allele num: 2980
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9470
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2138
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.29084e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.47e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.38e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.343e1

MQRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.408e0

GenotypeQuality
all individuals: 202
bin: 5.75e1
variant carriers: 5

GenotypeQuality
all individuals: 33694
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 8436
bin: 6.25e1
variant carriers: 6

GenotypeQuality
all individuals: 2774
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1471
bin: 1.75e1
variant carriers: 3

GenotypeQuality
all individuals: 909
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 329
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1170
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 362
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 444
bin: 9.75e1
variant carriers: 327

GenotypeQuality
all individuals: 73
bin: 9.25e1
variant carriers: 19

GenotypeQuality
all individuals: 324
bin: 5.25e1
variant carriers: 7

GenotypeQuality
all individuals: 264
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5250
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 2625
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1185
bin: 6.75e1
variant carriers: 7

GenotypeQuality
all individuals: 323
bin: 7.25e1
variant carriers: 4

GenotypeQuality
all individuals: 156
bin: 8.25e1
variant carriers: 13

GenotypeQuality
all individuals: 79
bin: 8.75e1
variant carriers: 15

European (Finnish)
type: Population
allele count: 9
allele frequency: 9.297520661157025e-3
allele num: 968
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 1.531862745098039e-3
allele num: 3264
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 281
allele frequency: 1.457620085071065e-2
allele num: 19278
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 1.063829787234043e-2
allele num: 282
num of homozygotes: 0

Latino
type: Population
allele count: 10
allele frequency: 3.465003465003465e-3
allele num: 2886
num of homozygotes: 0

South Asian
type: Population
allele count: 22
allele frequency: 2.269445017536621e-3
allele num: 9694
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.85e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.58e-1

QD
type: SiteQuality
SIO_000300: 1.28e1

DP
type: SiteQuality
SIO_000300: 6.65003e5

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 1.493e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.02e-2

GenotypeQuality
all individuals: 54
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32814
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 725
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variant carriers: 0

GenotypeQuality
all individuals: 2622
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variant carriers: 0

GenotypeQuality
all individuals: 341
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variant carriers: 0

GenotypeQuality
all individuals: 356
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variant carriers: 1

GenotypeQuality
all individuals: 335
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variant carriers: 0

GenotypeQuality
all individuals: 3957
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GenotypeQuality
all individuals: 11237
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variant carriers: 0

GenotypeQuality
all individuals: 63
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variant carriers: 0

GenotypeQuality
all individuals: 368
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variant carriers: 0

GenotypeQuality
all individuals: 392
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GenotypeQuality
all individuals: 1243
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1265
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2715
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1089
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 1
allele frequency: 8.305647840531562e-4
allele num: 1204
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3528
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 322
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: 2998
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.904912836767037e-5
allele num: 10096
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23042
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 1.164e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.07e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.322e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.23e0

DP
type: SiteQuality
SIO_000300: 7.19183e5

GenotypeQuality
all individuals: 12853
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 387
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variant carriers: 0

GenotypeQuality
all individuals: 55
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GenotypeQuality
all individuals: 596
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GenotypeQuality
all individuals: 117
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GenotypeQuality
all individuals: 200
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GenotypeQuality
all individuals: 1354
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1291
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GenotypeQuality
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GenotypeQuality
all individuals: 2639
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GenotypeQuality
all individuals: 141
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GenotypeQuality
all individuals: 31418
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variant carriers: 0

GenotypeQuality
all individuals: 589
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GenotypeQuality
all individuals: 1134
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2568
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variant carriers: 0

GenotypeQuality
all individuals: 356
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variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 8.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.801414126054892e-5
allele num: 26306
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4074
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 348
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4178
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10422
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1406
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.82e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.327e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.72e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.699999999999999e-3

DP
type: SiteQuality
SIO_000300: 7.58711e5

QD
type: SiteQuality
SIO_000300: 1.798e1

GenotypeQuality
all individuals: 1325
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2567
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 593
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 138
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GenotypeQuality
all individuals: 2882
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GenotypeQuality
all individuals: 145
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GenotypeQuality
all individuals: 30873
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GenotypeQuality
all individuals: 56
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GenotypeQuality
all individuals: 358
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variant carriers: 0

GenotypeQuality
all individuals: 696
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 9.75e1
variant carriers: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3746
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1562
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 368
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 7.125552230297848e-5
allele num: 28068
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.330000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.406e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.4e0

FS
type: SiteQuality
SIO_000300: 4.191e0

MQRankSum
type: SiteQuality
SIO_000300: -4.48e-1

DP
type: SiteQuality
SIO_000300: 7.82542e5

QD
type: SiteQuality
SIO_000300: 7.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.1e-3

GenotypeQuality
all individuals: 65
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 384
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GenotypeQuality
all individuals: 756
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 28041
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GenotypeQuality
all individuals: 295
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GenotypeQuality
all individuals: 471
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GenotypeQuality
all individuals: 149
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GenotypeQuality
all individuals: 774
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GenotypeQuality
all individuals: 401
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GenotypeQuality
all individuals: 57
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GenotypeQuality
all individuals: 2463
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variant carriers: 0

GenotypeQuality
all individuals: 17381
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4878
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1920
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.249212775528565e-4
allele num: 4446
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32804
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.106e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.58e-1

DP
type: SiteQuality
SIO_000300: 8.45291e5

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.76e-1

FS
type: SiteQuality
SIO_000300: 5.719e0

VQSLOD
type: SiteQuality
SIO_000300: -1.838e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.219e0

GenotypeQuality
all individuals: 212
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 487
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GenotypeQuality
all individuals: 66
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GenotypeQuality
all individuals: 2486
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GenotypeQuality
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GenotypeQuality
all individuals: 821
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GenotypeQuality
all individuals: 854
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GenotypeQuality
all individuals: 27731
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GenotypeQuality
all individuals: 549
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GenotypeQuality
all individuals: 388
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GenotypeQuality
all individuals: 459
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variant carriers: 0

GenotypeQuality
all individuals: 882
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4928
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 424
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1936
num of homozygotes: 0

South Asian
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allele frequency: 8.890469416785207e-5
allele num: 11248
num of homozygotes: 0

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

DP
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ClippingRankSum
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MQRankSum
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MQ
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -6.5e-3

VQSLOD
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.54e-1

QD
type: SiteQuality
SIO_000300: 4.85e0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 422
num of homozygotes: 0

European (Finnish)
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allele count: 5
allele frequency: 2.551020408163265e-3
allele num: 1960
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 5706
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 33444
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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ClippingRankSum
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FS
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MQRankSum
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BaseQRankSum
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SIO_000300: -2.048e0

InbreedingCoeff
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SIO_000300: 6.5e-3

MQ
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QD
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DP
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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SIO_000300: -1.16e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 5126
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
allele num: 436
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2090
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -5.9e-3

BaseQRankSum
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SIO_000300: -5.5e-1

MQ
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SIO_000300: 5.911e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e-1

MQRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: 4.01e-1

DP
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QD
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VQSLOD
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SIO_000300: -2.553e0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5326
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 8.510638297872341e-5
allele num: 11750
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2330
num of homozygotes: 0

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

African
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allele count: 3
allele frequency: 5.462490895848507e-4
allele num: 5492
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 37770
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 464
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.95e-1

BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.979e1

InbreedingCoeff
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SIO_000300: -5.4e-3

QD
type: SiteQuality
SIO_000300: 1.089e1

FS
type: SiteQuality
SIO_000300: 6.01e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 1.65e0

DP
type: SiteQuality
SIO_000300: 9.09819e5

MQRankSum
type: SiteQuality
SIO_000300: 3.71e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 512
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South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6192
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6172
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.296105804555474e-5
allele num: 43552
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.98692e5

BaseQRankSum
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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VQSLOD
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FS
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MQRankSum
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.194618794715358e-5
allele num: 45566
num of homozygotes: 0

Latino
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African
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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ReadPosRankSum
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FS
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MQ
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DP
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MQRankSum
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VQSLOD
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InbreedingCoeff
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QD
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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East Asian
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Latino
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European (Finnish)
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South Asian
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African
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DP
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InbreedingCoeff
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MQ
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BaseQRankSum
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ReadPosRankSum
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QD
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ClippingRankSum
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FS
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VQSLOD
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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South Asian
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European (Non-Finnish)
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African
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Other
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East Asian
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InbreedingCoeff
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VQSLOD
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FS
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DP
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MQ
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BaseQRankSum
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SIO_000300: -1.059e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.75e-1

QD
type: SiteQuality
SIO_000300: 2.085e1

MQRankSum
type: SiteQuality
SIO_000300: -2.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.35e-1

GenotypeQuality
all individuals: 599
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 415
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36558
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1043
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12970
bin: 2.25e1
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GenotypeQuality
all individuals: 63
bin: 9.25e1
variant carriers: 5

GenotypeQuality
all individuals: 496
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1123
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 103
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3068
bin: 6.75e1
variant carriers: 3

GenotypeQuality
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bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 300
bin: 9.75e1
variant carriers: 183

GenotypeQuality
all individuals: 74
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 8.25e1
variant carriers: 4

GenotypeQuality
all individuals: 658
bin: 7.25e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.859634767731618e-5
allele num: 53774
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.02543206407194e-5
allele num: 14234
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 7.028112449799197e-4
allele num: 9960
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 688
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4224
num of homozygotes: 0

African
type: Population
allele count: 182
allele frequency: 2.417640807651435e-2
allele num: 7528
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.177751e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.04e-1

QD
type: SiteQuality
SIO_000300: 1.167e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.9e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

GenotypeQuality
all individuals: 993
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37590
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12771
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 689
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 222
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 309
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.834391165572146e-5
allele num: 54514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14446
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10110
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4380
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7578
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

QD
type: SiteQuality
SIO_000300: 1.074e1

MQRankSum
type: SiteQuality
SIO_000300: 1.62e0

VQSLOD
type: SiteQuality
SIO_000300: -1.855e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.107e0

FS
type: SiteQuality
SIO_000300: 1.007e0

DP
type: SiteQuality
SIO_000300: 1.185724e6

MQ
type: SiteQuality
SIO_000300: 5.85e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.8e-2

GenotypeQuality
all individuals: 68
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1186
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1292
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3119
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 604
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variant carriers: 0

GenotypeQuality
all individuals: 13001
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37158
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.836344939033348e-5
allele num: 54456
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4406
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14454
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.89e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

DP
type: SiteQuality
SIO_000300: 1.180366e6

VQSLOD
type: SiteQuality
SIO_000300: -2.378e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.252e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.65e-1

FS
type: SiteQuality
SIO_000300: 1.4289e1

GenotypeQuality
all individuals: 66
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1231
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1332
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36771
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 138
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1063
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 287
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3107
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 699
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13169
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10108
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7566
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 6.225788599889319e-4
allele num: 14456
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7538
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54376
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e-1

FS
type: SiteQuality
SIO_000300: 6.781e0

DP
type: SiteQuality
SIO_000300: 1.177627e6

VQSLOD
type: SiteQuality
SIO_000300: 4.38e-1

QD
type: SiteQuality
SIO_000300: 1.2e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

GenotypeQuality
all individuals: 214
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 693
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variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13363
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3093
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variant carriers: 0

GenotypeQuality
all individuals: 1246
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variant carriers: 0

GenotypeQuality
all individuals: 272
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variant carriers: 0

GenotypeQuality
all individuals: 252
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variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36289
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variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
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variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1400
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variant carriers: 0

GenotypeQuality
all individuals: 1103
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 702
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4384
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54302
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.324152542372881e-4
allele num: 7552
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.03e-1

DP
type: SiteQuality
SIO_000300: 1.174228e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.263e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 1.145e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.96e0

GenotypeQuality
all individuals: 251
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 603
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1778
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1549
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1454
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 9.25e1
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GenotypeQuality
all individuals: 578
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32205
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 838
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3070
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7368
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7480
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14362
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.990430622009569e-4
allele num: 10032
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 682
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53640
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.149e0

FS
type: SiteQuality
SIO_000300: 1.511e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.76e-1

QD
type: SiteQuality
SIO_000300: 6.35e0

VQSLOD
type: SiteQuality
SIO_000300: -5.443e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.11e-1

DP
type: SiteQuality
SIO_000300: 1.14023e6

GenotypeQuality
all individuals: 199
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2182
bin: 2.75e1
variant carriers: 0