5-68548321-CTTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68548321
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68548318
    reference: chr 5
allele count: 161
allele frequency: 3.141095676603715e-3
allele num: 51256
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.-120+71_-120+73delTTT
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.127-2080_127-2078delTTT
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.160+71_160+73delTTT
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.160+71_160+73delTTT
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+71_160+73delTTT
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.345+71_345+73delTTT
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.160+71_160+73delTTT
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.160+71_160+73delTTT
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*70+71_*70+73delTTT
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.160+71_160+73delTTT
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.275+71_275+73delTTT
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.-120+71_-120+73delTTT
  variant of: http://identifiers.org/hgnc/1778
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 4714
  bin: 1.25e1
  variant carriers: 213
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 4.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9539
  bin: 2.75e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 2.5e0
  variant carriers: 204
genotype depth: GenotypeDepth
  all individuals: 8064
  bin: 3.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 5685
  bin: 3.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 9429
  bin: 2.25e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 7764
  bin: 1.75e1
  variant carriers: 114
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 7.5e0
  variant carriers: 416
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: CTTT
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

5-68548321-CTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68548321
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68548319
    reference: chr 5
allele count: 89
allele frequency: 1.736382082097706e-3
allele num: 51256
alternate allele: C
canonical: false
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4714
  bin: 1.25e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 7.5e0
  variant carriers: 285
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9539
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 2.5e0
  variant carriers: 176
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8064
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5685
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9429
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7764
  bin: 1.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 5.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 4561
  bin: 3.25e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 6726
  bin: 2.25e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 4.25e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 4.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 3182
  bin: 1.25e1
  variant carriers: 78
genotype quality: GenotypeQuality
  all individuals: 19902
  bin: 2.5e0
  variant carriers: 89
genotype quality: GenotypeQuality
  all individuals: 3686
  bin: 2.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 6.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 5.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 6.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 5462
  bin: 7.5e0
  variant carriers: 95
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 7.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4083
  bin: 1.75e1
  variant carriers: 71
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3187
  bin: 3.75e1
  variant carriers: 31
num of homozygotes: 1
population: South Asian
  type: Population
  allele count: 7
  allele frequency: 1.695736434108527e-3
  allele num: 4128
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 45
  allele frequency: 1.385638625446483e-3
  allele num: 32476
  num of homozygotes: 1
population: Other
  type: Population
  allele count: 2
  allele frequency: 4.854368932038835e-3
  allele num: 412
  num of homozygotes: 0
population: African
  type: Population
  allele count: 20
  allele frequency: 4.928536224741252e-3
  allele num: 4058
  num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
reference allele: CTT
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum

5-68548321-CTTTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68548321
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68548317
    reference: chr 5
allele count: 419
allele frequency: 8.174652723583581e-3
allele num: 51256
alternate allele: C
canonical: false
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 7.5e0
  variant carriers: 630
genotype depth: GenotypeDepth
  all individuals: 8064
  bin: 3.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 7764
  bin: 1.75e1
  variant carriers: 143
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9429
  bin: 2.25e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5685
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4714
  bin: 1.25e1
  variant carriers: 356
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 2.5e0
  variant carriers: 213
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9539
  bin: 2.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19902
  bin: 2.5e0
  variant carriers: 278
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 4.75e1
  variant carriers: 60
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 5.25e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 6.25e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 9.75e1
  variant carriers: 79
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 4.25e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 6.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 4083
  bin: 1.75e1
  variant carriers: 134
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 8.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 3182
  bin: 1.25e1
  variant carriers: 190
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 7.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 5462
  bin: 7.5e0
  variant carriers: 195
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 7.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 3686
  bin: 2.75e1
  variant carriers: 69
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 5.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 6726
  bin: 2.25e1
  variant carriers: 101
genotype quality: GenotypeQuality
  all individuals: 3187
  bin: 3.75e1
  variant carriers: 70
genotype quality: GenotypeQuality
  all individuals: 4561
  bin: 3.25e1
  variant carriers: 66
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 9.25e1
  variant carriers: 8
num of homozygotes: 2
population: East Asian
  type: Population
  allele count: 28
  allele frequency: 7.12468193384224e-3
  allele num: 3930
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 31
  allele frequency: 1.107142857142857e-2
  allele num: 2800
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 6
  allele frequency: 1.456310679611651e-2
  allele num: 412
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 89
  allele frequency: 2.578215527230591e-2
  allele num: 3452
  num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: CTTTT
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

5-68548321-CTTTTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68548321
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68548316
    reference: chr 5
allele count: 750
allele frequency: 1.463243327610426e-2
allele num: 51256
alternate allele: C
canonical: false
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 9429
  bin: 2.25e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 5685
  bin: 3.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 7.5e0
  variant carriers: 578
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 2.5e0
  variant carriers: 182
genotype depth: GenotypeDepth
  all individuals: 9539
  bin: 2.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7764
  bin: 1.75e1
  variant carriers: 253
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8064
  bin: 3.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4714
  bin: 1.25e1
  variant carriers: 487
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4083
  bin: 1.75e1
  variant carriers: 126
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 4.25e1
  variant carriers: 65
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 4.75e1
  variant carriers: 63
genotype quality: GenotypeQuality
  all individuals: 4561
  bin: 3.25e1
  variant carriers: 126
genotype quality: GenotypeQuality
  all individuals: 5462
  bin: 7.5e0
  variant carriers: 187
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 8.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 9.75e1
  variant carriers: 139
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 9.25e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 6.25e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 3182
  bin: 1.25e1
  variant carriers: 156
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 7.25e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 3686
  bin: 2.75e1
  variant carriers: 118
genotype quality: GenotypeQuality
  all individuals: 19902
  bin: 2.5e0
  variant carriers: 253
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 5.75e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 6726
  bin: 2.25e1
  variant carriers: 118
genotype quality: GenotypeQuality
  all individuals: 3187
  bin: 3.75e1
  variant carriers: 83
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 7.75e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.25e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 6.75e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 5.25e1
  variant carriers: 40
num of homozygotes: 3
population: African
  type: Population
  allele count: 77
  allele frequency: 1.897486446525382e-2
  allele num: 4058
  num of homozygotes: 1
population: European (Non-Finnish)
  type: Population
  allele count: 311
  allele frequency: 9.57630250030792e-3
  allele num: 32476
  num of homozygotes: 2
population: Latino
  type: Population
  allele count: 169
  allele frequency: 4.895712630359212e-2
  allele num: 3452
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 46
  allele frequency: 1.642857142857143e-2
  allele num: 2800
  num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
reference allele: CTTTTT
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

5-68548321-CTTTTTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68548321
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68548315
    reference: chr 5
allele count: 405
allele frequency: 7.9015139690963e-3
allele num: 51256
alternate allele: C
canonical: false
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 7.5e0
  variant carriers: 228
genotype depth: GenotypeDepth
  all individuals: 4714
  bin: 1.25e1
  variant carriers: 193
genotype depth: GenotypeDepth
  all individuals: 5685
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8064
  bin: 3.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9429
  bin: 2.25e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 7764
  bin: 1.75e1
  variant carriers: 147
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 2.5e0
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9539
  bin: 2.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4561
  bin: 3.25e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 7.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 4083
  bin: 1.75e1
  variant carriers: 56
genotype quality: GenotypeQuality
  all individuals: 3686
  bin: 2.75e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 6726
  bin: 2.25e1
  variant carriers: 64
genotype quality: GenotypeQuality
  all individuals: 19902
  bin: 2.5e0
  variant carriers: 94
genotype quality: GenotypeQuality
  all individuals: 5462
  bin: 7.5e0
  variant carriers: 67
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 4.25e1
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 4.75e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 6.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 9.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 5.25e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 3182
  bin: 1.25e1
  variant carriers: 50
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 5.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 9.75e1
  variant carriers: 96
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 8.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 3187
  bin: 3.75e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 6.25e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 7.75e1
  variant carriers: 15
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 84
  allele frequency: 2.433371958285052e-2
  allele num: 3452
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 39
  allele frequency: 9.447674418604651e-3
  allele num: 4128
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 167
  allele frequency: 5.142258898879173e-3
  allele num: 32476
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 5
  allele frequency: 1.213592233009709e-2
  allele num: 412
  num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
reference allele: CTTTTTT
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-68550380-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68550380
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68550380
    reference: chr 5
allele count: 1
allele frequency: 8.557980316645272e-6
allele num: 116850
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+2102G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.127-49G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.161-907G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.160+2102G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*71-49G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.-119-49G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.-119-49G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.161-49G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.346-49G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.161-49G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.276-49G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.161-49G>C
  variant of: http://identifiers.org/hgnc/1778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15425
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7775
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5833
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ

5-68550381-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68550381
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68550382
    reference: chr 5
allele count: 3
allele frequency: 2.565198802907225e-5
allele num: 116950
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+2106dupT
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.161-45dupT
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.160+2106dupT
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.127-45dupT
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*71-45dupT
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.-119-45dupT
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.161-903dupT
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.276-45dupT
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.161-45dupT
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.-119-45dupT
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.161-45dupT
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.346-45dupT
  variant of: http://identifiers.org/hgnc/1778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16471
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6661
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12818
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5787
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

5-68550386-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68550386
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68550386
    reference: chr 5
allele count: 1
allele frequency: 8.536793580331227e-6
allele num: 117140
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*71-43A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.161-43A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.-119-43A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.127-43A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.276-43A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.346-43A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+2108A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.161-43A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.-119-43A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.161-901A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.161-43A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.160+2108A>G
  variant of: http://identifiers.org/hgnc/1778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20185
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5097
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7098
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum

5-68550389-TTTCAGAATTA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68550389
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68550379
    reference: chr 5
allele count: 1
allele frequency: 8.517452259680084e-6
allele num: 117406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  variant of: http://identifiers.org/hgnc/1778
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 21409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14185
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: TTTCAGAATTA
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/5-68550392-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68550392
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68550392
    reference: chr 5
allele count: 3
allele frequency: 2.557108762359359e-5
allele num: 117320
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.161-37C>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.-119-37C>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.161-895C>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.161-37C>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.346-37C>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*71-37C>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.127-37C>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.276-37C>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.160+2114C>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.-119-37C>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.161-37C>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+2114C>A
  variant of: http://identifiers.org/hgnc/1778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14561
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7368
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

5-68550392-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68550392
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68550392
    reference: chr 5
allele count: 1
allele frequency: 8.523695874531197e-6
allele num: 117320
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.161-37C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.-119-37C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.161-37C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.-119-37C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.160+2114C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.346-37C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*71-37C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.127-37C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.276-37C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.161-37C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.161-895C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+2114C>T
  variant of: http://identifiers.org/hgnc/1778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

5-68550400-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68550400
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68550400
    reference: chr 5
allele count: 6
allele frequency: 5.068851905043508e-5
allele num: 118370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.-119-29T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.160+2122T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.127-29T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.161-29T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.346-29T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.276-29T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*71-29T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.161-887T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.161-29T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+2122T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.-119-29T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.161-29T>C
  variant of: http://identifiers.org/hgnc/1778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24336
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3473
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15622
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7514
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

5-68550413-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68550413
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68550413
    reference: chr 5
allele count: 1
allele frequency: 8.346827370916315e-6
allele num: 119806
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.346-16T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.-119-16T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.161-16T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.161-874T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.161-16T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.-119-16T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.160+2135T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*71-16T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.127-16T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+2135T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.276-16T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.161-16T>C
  variant of: http://identifiers.org/hgnc/1778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25390
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3494
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7656
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16408
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

5-68550423-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68550423
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68550423
    reference: chr 5
allele count: 263
allele frequency: 2.185946772611666e-3
allele num: 120314
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.161-864A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.127-6A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.276-6A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.-119-6A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.161-6A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.346-6A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*71-6A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.161-6A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.161-6A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.-119-6A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+2145A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.160+2145A>G
  variant of: http://identifiers.org/hgnc/1778
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3492
  bin: 3.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 7690
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 16593
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 4.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 25454
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 5.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 9.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: c.161-6A>G
num of homozygotes: 1
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

5-68550426-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68550426
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68550426
    reference: chr 5
allele count: 134
allele frequency: 1.112716523009981e-3
allele num: 120426
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.161-3T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.160+2148T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.-119-3T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.346-3T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.-119-3T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.127-3T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.276-3T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.161-3T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.161-3T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*71-3T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.161-861T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+2148T>C
  variant of: http://identifiers.org/hgnc/1778
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16726
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 5.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25404
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7753
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 9.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
hgvs: c.161-3T>C
num of homozygotes: 1
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum

5-68550442-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68550442
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68550442
    reference: chr 5
allele count: 4
allele frequency: 3.312958637711408e-5
allele num: 120738
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.174C>T
  hgvsp: ENST00000514676.1:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.359C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.160+2164C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+2164C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.174C>T
  hgvsp: ENST00000515391.1:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.-106C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.289C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.161-845C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.-106C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*84C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.174C>T
  hgvsp: ENST00000256443.3:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*8C>T
  variant of: http://identifiers.org/hgnc/1778
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25480
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr58Thr
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

5-68550445-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68550445
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68550445
    reference: chr 5
allele count: 3
allele frequency: 2.483649308717609e-5
allele num: 120790
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.177C>T
  hgvsp: ENST00000515391.1:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.177C>T
  hgvsp: ENST00000514676.1:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.362C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.160+2167C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*87C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.177C>T
  hgvsp: ENST00000256443.3:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+2167C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*11C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.-103C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.-103C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.292C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.161-842C>T
  variant of: http://identifiers.org/hgnc/1778
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala59Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

5-68550454-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68550454
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68550454
    reference: chr 5
allele count: 1
allele frequency: 8.275405494869249e-6
allele num: 120840
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*96G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.186G>C
  hgvsp: ENSP00000425893.1:p.Glu62Asp
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.186G>C
  hgvsp: ENSP00000256443.3:p.Glu62Asp
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.371G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.186G>C
  hgvsp: ENSP00000422737.1:p.Glu62Asp
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.161-833G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.160+2176G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.-94G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+2176G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.-94G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*20G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.301G>C
  variant of: http://identifiers.org/hgnc/1778
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25518
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu62Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

5-68550456-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68550456
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68550456
    reference: chr 5
allele count: 11
allele frequency: 9.102494083378845e-5
allele num: 120846
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.373T>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.188T>G
  hgvsp: ENSP00000425893.1:p.Ile63Arg
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*98T>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.161-831T>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*22T>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.-92T>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.188T>G
  hgvsp: ENSP00000422737.1:p.Ile63Arg
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+2178T>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.188T>G
  hgvsp: ENSP00000256443.3:p.Ile63Arg
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.160+2178T>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.-92T>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.303T>G
  variant of: http://identifiers.org/hgnc/1778
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16960
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3495
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ile63Arg
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

5-68550467-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68550467
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68550467
    reference: chr 5
allele count: 2
allele frequency: 1.654533421575116e-5
allele num: 120880
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*33C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.199C>T
  hgvsp: ENSP00000256443.3:p.Gln67Ter
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.-81C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.199C>T
  hgvsp: ENSP00000425893.1:p.Gln67Ter
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.-81C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.199C>T
  hgvsp: ENSP00000422737.1:p.Gln67Ter
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.161-820C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.384C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.314C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.160+2189C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+2189C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*109C>T
  variant of: http://identifiers.org/hgnc/1778
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25497
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln67Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

5-68550493-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68550493
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68550493
    reference: chr 5
allele count: 1
allele frequency: 8.28225940036442e-6
allele num: 120740
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*135T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.225T>C
  hgvsp: ENST00000514676.1:c.225T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*59T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.225T>C
  hgvsp: ENST00000515391.1:c.225T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.-55T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.-55T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.340T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.225T>C
  hgvsp: ENST00000256443.3:c.225T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+2215T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.410T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.160+2215T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.161-794T>C
  variant of: http://identifiers.org/hgnc/1778
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25117
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.225T>C
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

5-68550505-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68550505
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68550505
    reference: chr 5
allele count: 1
allele frequency: 8.295863682367972e-6
allele num: 120542
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*138+9G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.-52+9G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*62+9G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.-52+9G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.413+9G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.343+9G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.226+11G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.228+9G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+2227G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.228+9G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.160+2227G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.161-782G>A
  variant of: http://identifiers.org/hgnc/1778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24322
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

5-68550507-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68550507
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68550507
    reference: chr 5
allele count: 1
allele frequency: 8.302337938363443e-6
allele num: 120448
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.-52+11T>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.226+13T>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*62+11T>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.343+11T>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.161-780T>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.160+2229T>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*138+11T>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.228+11T>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.-52+11T>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+2229T>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.228+11T>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.413+11T>G
  variant of: http://identifiers.org/hgnc/1778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3492
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

5-68550512-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68550512
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68550512
    reference: chr 5
allele count: 1
allele frequency: 8.30923654734603e-6
allele num: 120348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.-52+16A>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.228+16A>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+2234A>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.343+16A>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.226+18A>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*138+16A>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.-52+16A>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.228+16A>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.413+16A>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*62+16A>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.160+2234A>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.161-775A>T
  variant of: http://identifiers.org/hgnc/1778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23480
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

5-68550514-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68550514
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68550514
    reference: chr 5
allele count: 1
allele frequency: 8.31282835672009e-6
allele num: 120296
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+2236T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*62+18T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.343+18T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.228+18T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.226+20T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*138+18T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.-52+18T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.161-773T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.160+2236T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.228+18T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.413+18T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.-52+18T>C
  variant of: http://identifiers.org/hgnc/1778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

5-68550523-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68550523
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68550523
    reference: chr 5
allele count: 1
allele frequency: 8.334027835652971e-6
allele num: 119990
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.343+27G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.-52+27G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.228+27G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.228+27G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*62+27G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+2245G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.226+29G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.161-764G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.160+2245G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.413+27G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*138+27G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.-52+27G>A
  variant of: http://identifiers.org/hgnc/1778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16433
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum

5-68550524-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68550524
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68550524
    reference: chr 5
allele count: 1
allele frequency: 8.335556148306214e-6
allele num: 119968
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.-52+28A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.343+28A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.-52+28A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*138+28A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.228+28A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.413+28A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*62+28A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.228+28A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+2246A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.161-763A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.226+30A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.160+2246A>G
  variant of: http://identifiers.org/hgnc/1778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7685
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/5-68550546-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68550546
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68550546
    reference: chr 5
allele count: 5
allele frequency: 4.220406509555e-5
allele num: 118472
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.160+2268A>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+2268A>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.413+50A>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.161-741A>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.228+50A>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.-52+50A>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.226+52A>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*62+50A>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.-52+50A>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.343+50A>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*138+50A>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.228+50A>C
  variant of: http://identifiers.org/hgnc/1778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8099
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17865
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6883
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ

5-68550548-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68550548
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68550548
    reference: chr 5
allele count: 1
allele frequency: 8.447230153232754e-6
allele num: 118382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*138+52T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.413+52T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.160+2270T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.228+52T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.-52+52T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.226+54T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.343+52T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.161-739T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.-52+52T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*62+52T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.228+52T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+2270T>C
  variant of: http://identifiers.org/hgnc/1778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8064
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

5-68551236-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68551236
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68551236
    reference: chr 5
allele count: 1
allele frequency: 8.734997641550637e-6
allele num: 114482
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.161-2634T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.229-51T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.414-51T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.161-51T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.-51-51T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*139-51T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.344-51T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.229-51T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.227-51T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*63-51T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.-51-51T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+2958T>C
  variant of: http://identifiers.org/hgnc/1778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15670
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27593
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

5-68551243-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68551243
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68551243
    reference: chr 5
allele count: 2
allele frequency: 1.747579602250883e-5
allele num: 114444
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+2965A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.161-44A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.344-44A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.229-44A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.227-44A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.-51-44A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.229-44A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.414-44A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.161-2627A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.-51-44A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*63-44A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*139-44A>G
  variant of: http://identifiers.org/hgnc/1778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15668
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

5-68551244-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68551244
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68551244
    reference: chr 5
allele count: 1
allele frequency: 8.736218615134625e-6
allele num: 114466
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.229-43G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*139-43G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.344-43G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*63-43G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.-51-43G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.414-43G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+2966G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.227-43G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.229-43G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.161-43G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.161-2626G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.-51-43G>A
  variant of: http://identifiers.org/hgnc/1778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7138
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15667
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

5-68551247-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68551247
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68551247
    reference: chr 5
allele count: 1
allele frequency: 8.726003490401396e-6
allele num: 114600
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.161-2623A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.344-40A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*63-40A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+2969A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.229-40A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.414-40A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.227-40A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.-51-40A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*139-40A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.229-40A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.-51-40A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.161-40A>G
  variant of: http://identifiers.org/hgnc/1778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15668
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7206
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

5-68551253-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68551253
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68551253
    reference: chr 5
allele count: 1
allele frequency: 8.72280665026779e-6
allele num: 114642
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+2975T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.414-34T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.161-2617T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.229-34T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.344-34T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.227-34T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.-51-34T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*139-34T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.-51-34T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*63-34T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.161-34T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.229-34T>C
  variant of: http://identifiers.org/hgnc/1778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27652
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

5-68551257-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68551257
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68551257
    reference: chr 5
allele count: 9
allele frequency: 7.843000557724484e-5
allele num: 114752
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*139-30G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.344-30G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.414-30G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.227-30G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.-51-30G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.-51-30G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.161-30G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.229-30G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*63-30G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.161-2613G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+2979G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.229-30G>C
  variant of: http://identifiers.org/hgnc/1778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27668
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2978
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/5-68551262-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68551262
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68551262
    reference: chr 5
allele count: 1
allele frequency: 8.672274737663689e-6
allele num: 115310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.-51-25A>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.227-25A>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.414-25A>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.161-2608A>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.229-25A>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+2984A>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.161-25A>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.229-25A>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*63-25A>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.-51-25A>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*139-25A>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.344-25A>C
  variant of: http://identifiers.org/hgnc/1778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: A
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum

5-68551264-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68551264
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68551264
    reference: chr 5
allele count: 1
allele frequency: 8.653663095588363e-6
allele num: 115558
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.229-23A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.-51-23A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.344-23A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.229-23A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+2986A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*63-23A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.227-23A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.161-2606A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.414-23A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.-51-23A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.161-23A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*139-23A>G
  variant of: http://identifiers.org/hgnc/1778
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15696
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ

5-68551317-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68551317
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68551317
    reference: chr 5
allele count: 1
allele frequency: 8.277186418792524e-6
allele num: 120814
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.*23A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+3039A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.444A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*93A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.259A>G
  hgvsp: ENSP00000422737.1:p.Ile87Val
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.161-2553A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.374A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.259A>G
  hgvsp: ENSP00000256443.3:p.Ile87Val
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.-21A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.*23A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.-21A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*169A>G
  variant of: http://identifiers.org/hgnc/1778
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11199
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28726
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile87Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

5-68551322-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68551322
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68551322
    reference: chr 5
allele count: 3
allele frequency: 2.480856060731356e-5
allele num: 120926
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.264C>T
  hgvsp: ENST00000256443.3:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.*28C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.449C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+3044C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.379C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*174C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.-16C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.-16C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.161-2548C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.264C>T
  hgvsp: ENST00000514676.1:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*98C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.*28C>T
  variant of: http://identifiers.org/hgnc/1778
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2978
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11214
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser88Ser
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

5-68551357-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68551357
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68551357
    reference: chr 5
allele count: 2
allele frequency: 1.654423929587718e-5
allele num: 120888
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.18+2T>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*131+2T>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.*61+2T>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*207+2T>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.*61+2T>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.18+2T>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+3079T>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.297+2T>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.482+2T>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.297+2T>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.414T>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.161-2513T>A
  variant of: http://identifiers.org/hgnc/1778
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.297+2T>A
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
reference allele: T
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

5-68551393-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68551393
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68551393
    reference: chr 5
allele count: 3
allele frequency: 2.496754219514631e-5
allele num: 120156
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.18+38G>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*207+38G>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.450G>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.482+38G>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.*61+38G>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.18+38G>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*131+38G>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.297+38G>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.*61+38G>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+3115G>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.297+38G>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.161-2477G>T
  variant of: http://identifiers.org/hgnc/1778
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

5-68551401-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68551401
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68551401
    reference: chr 5
allele count: 1
allele frequency: 8.355196096452384e-6
allele num: 119686
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.297+46A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.18+46A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.*61+46A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*131+46A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.18+46A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.*61+46A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.482+46A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*207+46A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.297+46A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.458A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.161-2469A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+3123A>G
  variant of: http://identifiers.org/hgnc/1778
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28452
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15808
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/5-68551413-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68551413
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68551413
    reference: chr 5
allele count: 3
allele frequency: 2.524742476267421e-5
allele num: 118824
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.*61+58A>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.297+58A>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.18+58A>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.482+58A>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*207+58A>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.161-2457A>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.18+58A>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.297+58A>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.*61+58A>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*131+58A>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.470A>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+3135A>C
  variant of: http://identifiers.org/hgnc/1778
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10444
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28030
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

5-68551417-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68551417
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68551417
    reference: chr 5
allele count: 1
allele frequency: 8.445090024659663e-6
allele num: 118412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.297+62T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.*61+62T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.482+62T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*207+62T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.161-2453T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*131+62T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.474T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.297+62T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.18+62T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.*61+62T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.18+62T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+3139T>C
  variant of: http://identifiers.org/hgnc/1778
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

5-68551421-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68551421
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68551421
    reference: chr 5
allele count: 1
allele frequency: 8.48824378236143e-6
allele num: 117810
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.18+66T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+3143T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.*61+66T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.161-2449T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.478T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*207+66T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.482+66T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.*61+66T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.18+66T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.297+66T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*131+66T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.297+66T>C
  variant of: http://identifiers.org/hgnc/1778
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10358
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27448
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

5-68551428-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68551428
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68551428
    reference: chr 5
allele count: 1
allele frequency: 8.567511994516792e-6
allele num: 116720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.18+73C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.482+73C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.485C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+3150C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.297+73C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*207+73C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.161-2442C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.297+73C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*131+73C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.*61+73C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.18+73C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.*61+73C>T
  variant of: http://identifiers.org/hgnc/1778
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10285
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ

5-68551436-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68551436
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68551436
    reference: chr 5
allele count: 1
allele frequency: 8.815232722143864e-6
allele num: 113440
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+3158G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.18+81G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.493G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.482+81G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.161-2434G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*207+81G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.297+81G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.*61+81G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.18+81G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*131+81G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.*61+81G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.297+81G>A
  variant of: http://identifiers.org/hgnc/1778
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3471
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/5-68551439-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68551439
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68551438
    reference: chr 5
allele count: 1
allele frequency: 8.948545861297538e-6
allele num: 111750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.*61+85delC
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.161-2430delC
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.*61+85delC
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.18+85delC
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.297+85delC
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+3162delC
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*131+85delC
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.297+85delC
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*207+85delC
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.497delC
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.482+85delC
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.18+85delC
  variant of: http://identifiers.org/hgnc/1778
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24392
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: AC
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

5-68551440-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68551440
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68551439
    reference: chr 5
allele count: 1
allele frequency: 8.949346697691069e-6
allele num: 111740
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*207+86delT
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.297+86delT
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.18+86delT
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.297+86delT
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.18+86delT
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*131+86delT
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.482+86delT
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+3163delT
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.161-2429delT
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.498delT
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.*61+86delT
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.*61+86delT
  variant of: http://identifiers.org/hgnc/1778
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 4252
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: CT
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

5-68551443-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68551443
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68551443
    reference: chr 5
allele count: 6
allele frequency: 5.471557022743438e-5
allele num: 109658
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*131+88G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.482+88G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.*61+88G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*207+88G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.297+88G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+3165G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.18+88G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.18+88G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.500G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.297+88G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.*61+88G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.161-2427G>A
  variant of: http://identifiers.org/hgnc/1778
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12232
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5061
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23662
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/5-68551461-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68551461
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68551461
    reference: chr 5
allele count: 1
allele frequency: 1.054296257248287e-5
allele num: 94850
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+3183C>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.*61+106C>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.482+106C>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.18+106C>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.18+106C>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.297+106C>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.518C>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*131+106C>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.*61+106C>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.297+106C>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.161-2409C>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*207+106C>A
  variant of: http://identifiers.org/hgnc/1778
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6834
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9396
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

5-68551466-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68551466
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68551466
    reference: chr 5
allele count: 2
allele frequency: 2.215771864128869e-5
allele num: 90262
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.297+111T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.18+111T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.523T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.297+111T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*131+111T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.482+111T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.*61+111T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*207+111T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.161-2404T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.*61+111T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+3188T>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.18+111T>C
  variant of: http://identifiers.org/hgnc/1778
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10760
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16844
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4786
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

5-68551470-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68551470
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68551470
    reference: chr 5
allele count: 2
allele frequency: 2.319109461966605e-5
allele num: 86240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*207+115G>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.18+115G>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+3192G>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*131+115G>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.482+115G>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.297+115G>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.*61+115G>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.527G>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.161-2400G>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.18+115G>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.297+115G>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.*61+115G>T
  variant of: http://identifiers.org/hgnc/1778
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4356
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18913
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11708
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

5-68551482-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68551482
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68551482
    reference: chr 5
allele count: 7
allele frequency: 8.975739857413961e-5
allele num: 77988
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.482+127A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.297+127A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.161-2388A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.297+127A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+3204A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.*61+127A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.*61+127A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*207+127A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.18+127A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*131+127A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.539A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.18+127A>G
  variant of: http://identifiers.org/hgnc/1778
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21000
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4236
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5245
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6531
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5880
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-68551493-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68551493
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68551493
    reference: chr 5
allele count: 1
allele frequency: 1.448687489134844e-5
allele num: 69028
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.161-2377G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.18+138G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.482+138G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.550G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*131+138G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.297+138G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.*61+138G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*207+138G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.18+138G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.*61+138G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+3215G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.297+138G>A
  variant of: http://identifiers.org/hgnc/1778
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19000
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15474
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8077
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum

5-68551495-C-CAATTTTTAAAAATTTA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68551495
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68551511
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 66714
alternate allele: CAATTTTTAAAAATTTA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  variant of: http://identifiers.org/hgnc/1778
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6490
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum

5-68551496-A-AATTTTTAAAAATTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68551496
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68551510
    reference: chr 5
allele count: 1
allele frequency: 1.515243348081702e-5
allele num: 65996
alternate allele: AATTTTTAAAAATTT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  variant of: http://identifiers.org/hgnc/1778
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16473
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8255
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6581
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17902
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

5-68551501-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68551501
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68551501
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 55820
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.297+146G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.297+146G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+3223G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*131+146G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*207+146G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.161-2369G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.*61+146G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.*61+146G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.18+146G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.558G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.482+146G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.18+146G>C
  variant of: http://identifiers.org/hgnc/1778
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8292
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14995
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

5-68551504-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68551504
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68551504
    reference: chr 5
allele count: 1
allele frequency: 1.887861053426468e-5
allele num: 52970
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*131+149C>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.161-2366C>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.*61+149C>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.297+149C>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.18+149C>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*207+149C>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.297+149C>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.*61+149C>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+3226C>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.482+149C>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.561C>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.18+149C>G
  variant of: http://identifiers.org/hgnc/1778
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4447
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8551
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5926
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14464
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD

5-68551506-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68551506
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68551506
    reference: chr 5
allele count: 1
allele frequency: 1.948482132418846e-5
allele num: 51322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.18+151C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+3228C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.563C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*207+151C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.297+151C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.482+151C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*131+151C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.297+151C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.18+151C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.*61+151C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.161-2364C>T
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.*61+151C>T
  variant of: http://identifiers.org/hgnc/1778
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14325
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8618
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

5-68551507-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68551507
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68551507
    reference: chr 5
allele count: 33150
allele frequency: 6.416957026713124e-1
allele num: 51660
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.18+152T>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*131+152T>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.297+152T>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.*61+152T>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.297+152T>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.564T>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.18+152T>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.482+152T>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.*61+152T>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.161-2363T>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*207+152T>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+3229T>G
  variant of: http://identifiers.org/hgnc/1778
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7704
  bin: 2.5e0
  variant carriers: 2701
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 3.75e1
  variant carriers: 428
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 176
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 2.25e1
  variant carriers: 2696
genotype depth: GenotypeDepth
  all individuals: 13630
  bin: 1.25e1
  variant carriers: 11475
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.75e1
  variant carriers: 227
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 20552
  bin: 7.5e0
  variant carriers: 14772
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 170
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 121
genotype depth: GenotypeDepth
  all individuals: 5423
  bin: 1.75e1
  variant carriers: 5216
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.25e1
  variant carriers: 296
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 91
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 3.25e1
  variant carriers: 902
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 2.75e1
  variant carriers: 1520
genotype quality: GenotypeQuality
num of homozygotes: 9912
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: T
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

5-68551507-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68551507
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68551507
    reference: chr 5
allele count: 1
allele frequency: 1.935733643050716e-5
allele num: 51660
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.18+152T>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.18+152T>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+3229T>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.297+152T>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.297+152T>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*207+152T>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*131+152T>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.161-2363T>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.564T>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.482+152T>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.*61+152T>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.*61+152T>A
  variant of: http://identifiers.org/hgnc/1778
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13630
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7704
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20552
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5423
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/5-68551520-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68551520
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68551520
    reference: chr 5
allele count: 8
allele frequency: 3.981287946650742e-4
allele num: 20094
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.577C>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.18+165C>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.482+165C>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.*61+165C>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+3242C>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.297+165C>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.18+165C>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.*61+165C>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*131+165C>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.297+165C>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*207+165C>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.161-2350C>A
  variant of: http://identifiers.org/hgnc/1778
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6954
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28138
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15403
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 2
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

5-68551534-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68551534
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68551534
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 14034
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.*61+179A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.161-2336A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.18+179A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.591A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.482+179A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*131+179A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*207+179A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.297+179A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+3256A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.18+179A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.*61+179A>G
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.297+179A>G
  variant of: http://identifiers.org/hgnc/1778
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 12036
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31655
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4827
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

5-68551537-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68551537
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68551538
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 12662
alternate allele: TC
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.*61+186dupC
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.18+186dupC
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.*61+186dupC
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.598dupC
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*131+186dupC
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.482+186dupC
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.18+186dupC
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.161-2329dupC
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.297+186dupC
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.297+186dupC
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*207+186dupC
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+3263dupC
  variant of: http://identifiers.org/hgnc/1778
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32148
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10970
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4386
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

5-68551545-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68551545
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68551545
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 10444
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.297+190G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.18+190G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.482+190G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.*61+190G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.18+190G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000512687
  gene symbol: CDK7
  hgvsc: ENST00000512687.1:n.602G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.161-2325G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.297+190G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.*61+190G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*207+190G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*131+190G>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.160+3267G>A
  variant of: http://identifiers.org/hgnc/1778
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3453
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9770
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32768
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

5-68553839-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68553839
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68553839
    reference: chr 5
allele count: 1
allele frequency: 8.30137304710199e-6
allele num: 120462
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*132-31G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.*62-31G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.*62-31G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.483-31G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.19-31G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.298-1806G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.161-31G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*208-31G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.161-4193G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.19-31G>C
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.298-31G>C
  variant of: http://identifiers.org/hgnc/1778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD

5-68553859-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68553859
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 68553859
    reference: chr 5
allele count: 14
allele frequency: 1.16319646388275e-4
allele num: 120358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422121
  ensembl transcript: ENST00000502604
  gene symbol: CDK7
  hgvsc: ENST00000502604.1:c.19-11T>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426561
  ensembl transcript: ENST00000510106
  gene symbol: CDK7
  hgvsc: ENST00000510106.1:c.*132-11T>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000426372
  ensembl transcript: ENST00000515180
  gene symbol: CDK7
  hgvsc: ENST00000515180.1:c.*62-11T>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422027
  ensembl transcript: ENST00000504147
  gene symbol: CDK7
  hgvsc: ENST00000504147.1:c.*208-11T>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425983
  ensembl transcript: ENST00000506789
  gene symbol: CDK7
  hgvsc: ENST00000506789.1:c.161-11T>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000421559
  ensembl transcript: ENST00000508726
  gene symbol: CDK7
  hgvsc: ENST00000508726.1:c.161-4173T>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl transcript: ENST00000513629
  gene symbol: CDK7
  hgvsc: ENST00000513629.1:n.483-11T>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425043
  ensembl transcript: ENST00000506563
  gene symbol: CDK7
  hgvsc: ENST00000506563.1:c.19-11T>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000422737
  ensembl transcript: ENST00000514676
  gene symbol: CDK7
  hgvsc: ENST00000514676.1:c.298-1786T>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000256443
  ensembl transcript: ENST00000256443
  gene symbol: CDK7
  hgvsc: ENST00000256443.3:c.298-11T>A
  variant of: http://identifiers.org/hgnc/1778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134058
  ensembl protein: ENSP00000425893
  ensembl transcript: ENST00000515391
  gene symbol: CDK7
  hgvsc: ENST00000515391.1:c.*62-11T>A
  variant of: http://identifiers.org/hgnc/1778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 2
num of homozygotes: 0
reference allele: T

GenotypeDepth
all individuals: 832
bin: 5.75e1
variant carriers: 4

GenotypeDepth
all individuals: 142
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3182
bin: 1.25e1
variant carriers: 65

GenotypeQuality
all individuals: 3187
bin: 3.75e1
variant carriers: 23

GenotypeQuality
all individuals: 219
bin: 8.25e1
variant carriers: 3

GenotypeQuality
all individuals: 123
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 564
bin: 5.75e1
variant carriers: 25

GenotypeQuality
all individuals: 4561
bin: 3.25e1
variant carriers: 33

GenotypeQuality
all individuals: 966
bin: 6.25e1
variant carriers: 16

GenotypeQuality
all individuals: 3686
bin: 2.75e1
variant carriers: 31

GenotypeQuality
all individuals: 254
bin: 7.25e1
variant carriers: 14

GenotypeQuality
all individuals: 313
bin: 7.75e1
variant carriers: 8

GenotypeQuality
all individuals: 1600
bin: 4.25e1
variant carriers: 19

GenotypeQuality
all individuals: 5462
bin: 7.5e0
variant carriers: 70

GenotypeQuality
all individuals: 4083
bin: 1.75e1
variant carriers: 56

GenotypeQuality
all individuals: 6726
bin: 2.25e1
variant carriers: 45

GenotypeQuality
all individuals: 1136
bin: 5.25e1
variant carriers: 16

GenotypeQuality
all individuals: 19902
bin: 2.5e0
variant carriers: 741

GenotypeQuality
all individuals: 1770
bin: 4.75e1
variant carriers: 30

GenotypeQuality
all individuals: 800
bin: 9.75e1
variant carriers: 33

GenotypeQuality
all individuals: 139
bin: 9.25e1
variant carriers: 7

GenotypeQuality
all individuals: 571
bin: 6.75e1
variant carriers: 8

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

South Asian
type: Population
allele count: 14
allele frequency: 3.391472868217054e-3
allele num: 4128
num of homozygotes: 0

African
type: Population
allele count: 32
allele frequency: 7.885657959586003e-3
allele num: 4058
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 1.785714285714286e-3
allele num: 2800
num of homozygotes: 0

Latino
type: Population
allele count: 36
allele frequency: 1.04287369640788e-2
allele num: 3452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 69
allele frequency: 2.124645892351275e-3
allele num: 32476
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 1.272264631043257e-3
allele num: 3930
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

VQSLOD
type: SiteQuality
SIO_000300: 6.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.495e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.352e-1

MQ
type: SiteQuality
SIO_000300: 5.226e1

QD
type: SiteQuality
SIO_000300: 2.37e0

FS
type: SiteQuality
SIO_000300: 8.098000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: -5.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 1.718645e6

East Asian
type: Population
allele count: 5
allele frequency: 1.272264631043257e-3
allele num: 3930
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 1.738122827346466e-3
allele num: 3452
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 1.428571428571429e-3
allele num: 2800
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.098000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

QD
type: SiteQuality
SIO_000300: 2.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.352e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 5.226e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.495e0

DP
type: SiteQuality
SIO_000300: 1.718645e6

VQSLOD
type: SiteQuality
SIO_000300: 6.2e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.92e-1

South Asian
type: Population
allele count: 49
allele frequency: 1.187015503875969e-2
allele num: 4128
num of homozygotes: 0

African
type: Population
allele count: 37
allele frequency: 9.117792015771316e-3
allele num: 4058
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 179
allele frequency: 5.511762532331568e-3
allele num: 32476
num of homozygotes: 2

MQRankSum
type: SiteQuality
SIO_000300: -5.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.352e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 8.098000000000001e0

DP
type: SiteQuality
SIO_000300: 1.718645e6

QD
type: SiteQuality
SIO_000300: 2.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.495e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

MQ
type: SiteQuality
SIO_000300: 5.226e1

South Asian
type: Population
allele count: 89
allele frequency: 2.156007751937985e-2
allele num: 4128
num of homozygotes: 0

Other
type: Population
allele count: 6
allele frequency: 1.456310679611651e-2
allele num: 412
num of homozygotes: 0

East Asian
type: Population
allele count: 52
allele frequency: 1.323155216284987e-2
allele num: 3930
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.37e0

MQRankSum
type: SiteQuality
SIO_000300: -5.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.352e-1

DP
type: SiteQuality
SIO_000300: 1.718645e6

FS
type: SiteQuality
SIO_000300: 8.098000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 6.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 5.226e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.495e0

East Asian
type: Population
allele count: 22
allele frequency: 5.597964376590331e-3
allele num: 3930
num of homozygotes: 0

African
type: Population
allele count: 65
allele frequency: 1.601774273040907e-2
allele num: 4058
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 23
allele frequency: 8.214285714285714e-3
allele num: 2800
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.098000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.352e-1

DP
type: SiteQuality
SIO_000300: 1.718645e6

QD
type: SiteQuality
SIO_000300: 2.37e0

MQRankSum
type: SiteQuality
SIO_000300: -5.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

VQSLOD
type: SiteQuality
SIO_000300: 6.2e-1

MQ
type: SiteQuality
SIO_000300: 5.226e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.495e0

GenotypeDepth
all individuals: 813
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 615
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1694
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2141
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2717
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1284
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1576
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6889
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2931
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3244
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3746
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2664
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1712
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17193
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7557
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1226
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2815
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15332
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.546551190844417e-5
allele num: 64660
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9738
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8364
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11332
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.203e0

QD
type: SiteQuality
SIO_000300: 1.162e1

VQSLOD
type: SiteQuality
SIO_000300: 4.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.22e-1

DP
type: SiteQuality
SIO_000300: 1.627523e6

MQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 190
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 615
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2103
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2978
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2918
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1662
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3740
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1288
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2613
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1634
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1201
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7557
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 18488
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6945
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1689
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2058
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2722
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.581661891117478e-4
allele num: 8376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9738
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64712
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15346
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.01e-1

MQ
type: SiteQuality
SIO_000300: 6.054e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.91e-1

DP
type: SiteQuality
SIO_000300: 1.632756e6

QD
type: SiteQuality
SIO_000300: 1.289e1

VQSLOD
type: SiteQuality
SIO_000300: 2.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.84e-1

GenotypeDepth
all individuals: 286
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 809
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2943
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1957
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7547
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1419
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1696
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1686
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2213
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1295
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2732
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1170
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1126
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3736
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22579
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7200
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64820
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9754
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.191895113230036e-4
allele num: 8390
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15402
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.660087e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.53e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.597e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.648e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.37e-1

GenotypeQuality
all individuals: 70
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1037
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24831
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3814
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7562
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2754
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1671
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1304
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1718
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1693
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1635
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3020
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7621
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15466
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.53955106690889e-5
allele num: 64954
num of homozygotes: 0

European (Finnish)
type: Population
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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

VQSLOD
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SIO_000300: 7.28e-1

ReadPosRankSum
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FS
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MQRankSum
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ClippingRankSum
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SIO_000300: -3.32e-1

MQ
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InbreedingCoeff
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DP
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SIO_000300: 1.683218e6

QD
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BaseQRankSum
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SIO_000300: -6.860000000000001e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8404
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

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

Latino
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allele frequency: 8.788890841975742e-5
allele num: 11378
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.080240258740182e-5
allele num: 64930
num of homozygotes: 0

Other
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QD
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InbreedingCoeff
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MQ
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BaseQRankSum
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MQRankSum
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DP
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ReadPosRankSum
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VQSLOD
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FS
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SIO_000300: 7.087e0

ClippingRankSum
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SIO_000300: -8.97e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11378
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

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

South Asian
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allele frequency: 6.489292667099286e-5
allele num: 15410
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64930
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 7.087e0

DP
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ClippingRankSum
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SIO_000300: -8.97e-1

ReadPosRankSum
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QD
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VQSLOD
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MQRankSum
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SIO_000300: -1.9e-1

InbreedingCoeff
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SIO_000300: 3.9e-3

MQ
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SIO_000300: 5.917e1

BaseQRankSum
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SIO_000300: -1.877e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2759
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9838
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.639886318491581e-5
allele num: 65446
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: 8482
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.371861858034918e-5
allele num: 15694
num of homozygotes: 0

ClippingRankSum
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SIO_000300: -3.18e-1

DP
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ReadPosRankSum
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SIO_000300: 3.69e-1

VQSLOD
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FS
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: 1.93e0

MQ
type: SiteQuality
SIO_000300: 5.85e1

MQRankSum
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SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

QD
type: SiteQuality
SIO_000300: 1.3e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16132
num of homozygotes: 0

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.43e0

InbreedingCoeff
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MQ
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SIO_000300: 6.0e1

QD
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VQSLOD
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FS
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ClippingRankSum
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MQRankSum
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DP
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SIO_000300: 1.755548e6

ReadPosRankSum
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SIO_000300: 8.66e-1

GenotypeDepth
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variant carriers: 5

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 262

African
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allele count: 2
allele frequency: 2.009646302250804e-4
allele num: 9952
num of homozygotes: 0

European (Non-Finnish)
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allele count: 187
allele frequency: 2.818217439792627e-3
allele num: 66354
num of homozygotes: 1

Latino
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allele count: 16
allele frequency: 1.384562132225684e-3
allele num: 11556
num of homozygotes: 0

European (Finnish)
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allele count: 9
allele frequency: 1.366120218579235e-3
allele num: 6588
num of homozygotes: 0

Other
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allele count: 2
allele frequency: 2.217294900221729e-3
allele num: 902
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South Asian
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allele count: 47
allele frequency: 2.877433574139831e-3
allele num: 16334
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8628
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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DP
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InbreedingCoeff
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SIO_000300: 1.8e-3

MQ
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MQRankSum
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QD
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VQSLOD
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GenotypeDepth
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variant carriers: 5

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 133

South Asian
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allele count: 36
allele frequency: 2.198607548552584e-3
allele num: 16374
num of homozygotes: 0

European (Non-Finnish)
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allele count: 90
allele frequency: 1.355340039756641e-3
allele num: 66404
num of homozygotes: 1

Other
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allele num: 902
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European (Finnish)
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allele count: 0
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Latino
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allele count: 8
allele frequency: 6.924009001211701e-4
allele num: 11554
num of homozygotes: 0

African
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East Asian
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allele count: 0
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MQ
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InbreedingCoeff
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VQSLOD
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QD
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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DP
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FS
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MQRankSum
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SIO_000300: 1.71e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.625346901017577e-4
allele num: 8648
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66522
num of homozygotes: 0

ClippingRankSum
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SIO_000300: -4.5e-2

VQSLOD
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SIO_000300: -1.988e0

MQ
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SIO_000300: 5.844e1

InbreedingCoeff
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SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 2.947e0

BaseQRankSum
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SIO_000300: -9.85e-1

QD
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ReadPosRankSum
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SIO_000300: 2.43e-1

DP
type: SiteQuality
SIO_000300: 1.769406e6

MQRankSum
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SIO_000300: 1.3e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10072
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.508295263284443e-5
allele num: 66544
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11564
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

Other
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allele frequency: 0.0e0
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QD
type: SiteQuality
SIO_000300: 9.279999999999999e0

ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4

FS
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SIO_000300: 2.82e0

BaseQRankSum
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SIO_000300: -1.78e0

ClippingRankSum
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SIO_000300: -3.11e-1

DP
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SIO_000300: 1.76998e6

MQRankSum
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SIO_000300: 6.909999999999999e-1

VQSLOD
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SIO_000300: -1.214e0

MQ
type: SiteQuality
SIO_000300: 5.867e1

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502268425322237e-5
allele num: 66566
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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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South Asian
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: -2.334e0

BaseQRankSum
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DP
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ClippingRankSum
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SIO_000300: -9.0e-1

InbreedingCoeff
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FS
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SIO_000300: 1.043e0

MQRankSum
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SIO_000300: -1.817e0

ReadPosRankSum
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SIO_000300: 1.77e0

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.669e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11

South Asian
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allele count: 1
allele frequency: 6.070908207867897e-5
allele num: 16472
num of homozygotes: 0

African
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allele count: 3
allele frequency: 2.975600079349336e-4
allele num: 10082
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6602
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 (Non-Finnish)
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allele count: 6
allele frequency: 9.013339742819372e-5
allele num: 66568
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: -1.774e-1

QD
type: SiteQuality
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ReadPosRankSum
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FS
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SIO_000300: 1.744e0

MQRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.771058e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.01e-1

BaseQRankSum
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SIO_000300: 3.18e0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502223290469895e-5
allele num: 66568
num of homozygotes: 0

South Asian
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num of homozygotes: 0

Latino
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allele num: 11570
num of homozygotes: 0

Other
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East Asian
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African
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European (Finnish)
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ClippingRankSum
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MQRankSum
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MQ
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FS
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BaseQRankSum
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DP
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InbreedingCoeff
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VQSLOD
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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Other
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European (Finnish)
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European (Non-Finnish)
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East Asian
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FS
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MQ
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ReadPosRankSum
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QD
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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DP
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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East Asian
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South Asian
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African
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Latino
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Other
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QD
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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DP
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MQ
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FS
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VQSLOD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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South Asian
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African
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European (Non-Finnish)
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Latino
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DP
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MQRankSum
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VQSLOD
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BaseQRankSum
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FS
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QD
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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European (Finnish)
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Latino
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East Asian
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South Asian
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European (Non-Finnish)
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DP
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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FS
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VQSLOD
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BaseQRankSum
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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European (Finnish)
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Latino
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South Asian
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European (Non-Finnish)
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Other
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QD
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BaseQRankSum
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ClippingRankSum
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FS
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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DP
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VQSLOD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele num: 66090
num of homozygotes: 0

European (Finnish)
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East Asian
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Other
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Latino
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African
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South Asian
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MQ
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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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BaseQRankSum
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InbreedingCoeff
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DP
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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South Asian
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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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BaseQRankSum
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MQRankSum
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FS
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ClippingRankSum
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VQSLOD
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QD
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DP
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MQ
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InbreedingCoeff
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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European (Non-Finnish)
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East Asian
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Other
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South Asian
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African
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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DP
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ClippingRankSum
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QD
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FS
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MQ
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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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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African
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European (Non-Finnish)
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South Asian
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InbreedingCoeff
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VQSLOD
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MQ
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DP
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FS
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QD
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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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European (Non-Finnish)
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

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

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

East Asian
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allele count: 1
allele frequency: 1.165229550221394e-4
allele num: 8582
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 7.65e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -6.313e-1

DP
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SIO_000300: 1.642076e6

MQ
type: SiteQuality
SIO_000300: 5.961e1

InbreedingCoeff
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SIO_000300: 1.0e-4

ClippingRankSum
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SIO_000300: -1.297e0

ReadPosRankSum
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SIO_000300: 1.16e0

MQRankSum
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SIO_000300: 2.02e0

QD
type: SiteQuality
SIO_000300: 1.587e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 2
allele frequency: 1.706484641638225e-4
allele num: 11720
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65004
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.095e1

VQSLOD
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SIO_000300: 3.52e0

FS
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SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: -6.889999999999999e-1

InbreedingCoeff
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SIO_000300: 1.0e-4

MQRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: -6.840000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.643537e6

ReadPosRankSum
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SIO_000300: 6.889999999999999e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11740
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.538461538461538e-5
allele num: 65000
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

InbreedingCoeff
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SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
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SIO_000300: 1.643767e6

BaseQRankSum
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SIO_000300: -5.391e0

MQ
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SIO_000300: 5.97e1

VQSLOD
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SIO_000300: 1.96e0

QD
type: SiteQuality
SIO_000300: 1.563e1

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.097e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 996
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variant carriers: 1

GenotypeQuality
all individuals: 41182
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537751806858373e-5
allele num: 65030
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11832
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.73e0

QD
type: SiteQuality
SIO_000300: 1.494e1

ClippingRankSum
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SIO_000300: -1.106e0

DP
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SIO_000300: 1.644749e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.47e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.88e-1

FS
type: SiteQuality
SIO_000300: 2.103e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.979e1

VQSLOD
type: SiteQuality
SIO_000300: 8.21e-1

GenotypeDepth
all individuals: 12
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 25
bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.827044025157233e-5
allele num: 10176
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11876
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65036
num of homozygotes: 0

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

Other
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allele count: 0
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num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.48e-1

QD
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DP
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InbreedingCoeff
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SIO_000300: 5.3e-3

FS
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MQ
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SIO_000300: 6.0e1

BaseQRankSum
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ReadPosRankSum
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SIO_000300: -3.74e-1

VQSLOD
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SIO_000300: -8.42e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.16e-1

GenotypeDepth
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variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.075962986873252e-4
allele num: 65058
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11960
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 2
allele frequency: 1.735809755250825e-4
allele num: 11522
num of homozygotes: 0

VQSLOD
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BaseQRankSum
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MQ
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
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MQRankSum
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DP
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Other
type: Population
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African
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East Asian
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Latino
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European (Non-Finnish)
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South Asian
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QD
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ClippingRankSum
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DP
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
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MQ
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 357
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variant carriers: 0

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

African
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allele count: 1
allele frequency: 9.807767752059631e-5
allele num: 10196
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South Asian
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65232
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.657722e6

VQSLOD
type: SiteQuality
SIO_000300: -4.102e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.900000000000001e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.18e-1

FS
type: SiteQuality
SIO_000300: 5.355e0

QD
type: SiteQuality
SIO_000300: 3.236e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 2.5e0
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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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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503262078710802e-5
allele num: 66522
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16296
num of homozygotes: 0

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

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

African
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allele 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: 8638
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
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SIO_000300: 5.78e0

QD
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SIO_000300: 1.559e1

FS
type: SiteQuality
SIO_000300: 1.771e0

MQRankSum
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SIO_000300: 1.21e0

VQSLOD
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SIO_000300: 2.83e-1

ClippingRankSum
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SIO_000300: -4.91e-1

MQ
type: SiteQuality
SIO_000300: 5.991e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-2

DP
type: SiteQuality
SIO_000300: 1.719466e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.473830477072719e-4
allele num: 8636
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66550
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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.987e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
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SIO_000300: 1.721354e6

ReadPosRankSum
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SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 8.789999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.239e0

VQSLOD
type: SiteQuality
SIO_000300: 5.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.87e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00507858280494e-5
allele num: 66554
num of homozygotes: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10152
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.72013e6

MQ
type: SiteQuality
SIO_000300: 5.984e1

BaseQRankSum
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SIO_000300: 8.119999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.68e-1

QD
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SIO_000300: 1.014e1

FS
type: SiteQuality
SIO_000300: 6.393e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9868
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.527755139002083e-5
allele num: 66258
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.87e-1

VQSLOD
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SIO_000300: 2.38e0

MQ
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SIO_000300: 6.0e1

FS
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BaseQRankSum
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InbreedingCoeff
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QD
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ClippingRankSum
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SIO_000300: 6.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.08e-1

DP
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SIO_000300: 1.709717e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9500
bin: 6.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 1.026061974143238e-4
allele num: 9746
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6588
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InbreedingCoeff
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SIO_000300: -8.0e-4

QD
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FS
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BaseQRankSum
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MQ
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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MQRankSum
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DP
type: SiteQuality
SIO_000300: 1.701444e6

GenotypeDepth
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variant carriers: 0

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

Other
type: Population
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num of homozygotes: 0

South Asian
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African
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European (Non-Finnish)
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allele count: 1
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allele num: 65456
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European (Finnish)
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allele count: 0
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Latino
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allele count: 2
allele frequency: 1.745505323791238e-4
allele num: 11458
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
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MQRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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QD
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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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 (Finnish)
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allele count: 0
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FS
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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QD
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DP
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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East Asian
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Other
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South Asian
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European (Finnish)
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European (Non-Finnish)
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FS
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ReadPosRankSum
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DP
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MQRankSum
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MQ
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QD
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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European (Finnish)
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European (Non-Finnish)
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Latino
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South Asian
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ReadPosRankSum
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VQSLOD
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DP
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ClippingRankSum
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QD
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InbreedingCoeff
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MQRankSum
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FS
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MQ
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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European (Finnish)
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Other
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Latino
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South Asian
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European (Non-Finnish)
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FS
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ClippingRankSum
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QD
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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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ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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South Asian
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East Asian
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Latino
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European (Non-Finnish)
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VQSLOD
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BaseQRankSum
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FS
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ReadPosRankSum
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DP
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MQRankSum
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QD
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InbreedingCoeff
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MQ
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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European (Finnish)
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South Asian
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Latino
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European (Non-Finnish)
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MQRankSum
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MQ
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FS
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DP
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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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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South Asian
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African
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DP
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ReadPosRankSum
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MQ
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VQSLOD
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ClippingRankSum
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FS
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QD
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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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European (Finnish)
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African
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European (Non-Finnish)
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East Asian
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South Asian
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DP
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SIO_000300: 1.182768e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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SIO_000300: -2.434e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.47e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.47e-1

QD
type: SiteQuality
SIO_000300: 1.49e0

MQ
type: SiteQuality
SIO_000300: 4.712e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 149
bin: 9.25e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7702
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7564
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 738
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.228508605015011e-5
allele num: 47298
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5820
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.061349e6

InbreedingCoeff
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SIO_000300: -1.05e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

FS
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SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: -1.561e0

VQSLOD
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SIO_000300: -1.457e0

QD
type: SiteQuality
SIO_000300: 1.104e1

BaseQRankSum
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SIO_000300: -1.387e0

MQ
type: SiteQuality
SIO_000300: 5.883e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.77e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 424
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7140
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.365374112506827e-4
allele num: 14648
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 44754
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5684
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.92e-1

DP
type: SiteQuality
SIO_000300: 9.72593e5

VQSLOD
type: SiteQuality
SIO_000300: 8.55e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.21e-2

BaseQRankSum
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SIO_000300: -1.898e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

QD
type: SiteQuality
SIO_000300: 1.244e1

GenotypeDepth
all individuals: 10
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variant carriers: 0

GenotypeDepth
all individuals: 8
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1332
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GenotypeQuality
all individuals: 251
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6812
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5826
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5364
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.504759042180142e-5
allele num: 39924
num of homozygotes: 0

Other
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allele count: 0
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num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 4.264392324093816e-4
allele num: 14070
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5354
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.297e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.64e-2

VQSLOD
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SIO_000300: 3.72e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 8.30128e5

MQRankSum
type: SiteQuality
SIO_000300: 1.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

GenotypeDepth
all individuals: 128
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6228
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4726
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.881678289435767e-5
allele num: 34702
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

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

South Asian
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allele count: 0
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BaseQRankSum
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SIO_000300: -1.557e0

MQRankSum
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SIO_000300: -4.81e-1

MQ
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SIO_000300: 6.0e1

ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -2.16e-2

FS
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SIO_000300: 0.0e0

VQSLOD
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DP
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.68e-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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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6032
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4830
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4564
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 33348
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 num: 552
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InbreedingCoeff
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SIO_000300: -2.33e-2

VQSLOD
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QD
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ReadPosRankSum
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FS
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ClippingRankSum
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BaseQRankSum
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DP
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MQ
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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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bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 3.03342838075593e-5
allele num: 32966
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13056
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5962
num of homozygotes: 0

Latino
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
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num of homozygotes: 0

European (Finnish)
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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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FS
type: SiteQuality
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DP
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VQSLOD
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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QD
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ClippingRankSum
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SIO_000300: -7.27e-1

MQ
type: SiteQuality
SIO_000300: 3.912e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3993
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4156
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3900
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3016
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 27160
num of homozygotes: 0

South Asian
type: Population
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num of homozygotes: 0

Other
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BaseQRankSum
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MQRankSum
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VQSLOD
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MQ
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FS
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DP
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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SIO_000300: 7.5e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 25606
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

Other
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MQ
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SIO_000300: 6.0e1

ClippingRankSum
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DP
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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MQRankSum
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FS
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2586
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
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South Asian
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allele count: 1
allele frequency: 8.62663906142167e-5
allele num: 11592
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
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SIO_000300: -3.61e-1

QD
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FS
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VQSLOD
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DP
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: 2.51e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 23

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 15336

European (Finnish)
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allele count: 2353
allele frequency: 6.221575885774723e-1
allele num: 3782
num of homozygotes: 658

East Asian
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allele count: 2077
allele frequency: 5.880520951302378e-1
allele num: 3532
num of homozygotes: 561

Other
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allele frequency: 6.076233183856502e-1
allele num: 446
num of homozygotes: 78

European (Non-Finnish)
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allele count: 15088
allele frequency: 6.066259247346414e-1
allele num: 24872
num of homozygotes: 4106

Latino
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allele frequency: 6.859504132231405e-1
allele num: 2662
num of homozygotes: 580

African
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allele count: 3507
allele frequency: 7.509635974304069e-1
allele num: 4670
num of homozygotes: 1289

South Asian
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allele count: 8028
allele frequency: 6.863885088919288e-1
allele num: 11696
num of homozygotes: 2640

DP
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SIO_000300: 6.67336e5

MQ
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ReadPosRankSum
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VQSLOD
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FS
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InbreedingCoeff
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SIO_000300: 1.136e-1

MQRankSum
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SIO_000300: 1.18e-1

QD
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SIO_000300: 2.583e1

BaseQRankSum
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SIO_000300: 1.92e0

ClippingRankSum
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SIO_000300: 0.0e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2662
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 24872
num of homozygotes: 0

South Asian
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allele num: 11696
num of homozygotes: 0

Other
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African
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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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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DP
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SIO_000300: 6.67336e5

VQSLOD
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ClippingRankSum
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QD
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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SIO_000300: 1.18e-1

FS
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SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: 1.136e-1

MQ
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SIO_000300: 6.0e1

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele count: 0
allele frequency: 0.0e0
allele num: 8704
num of homozygotes: 0

Latino
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South Asian
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allele frequency: 1.282873636946761e-3
allele num: 6236
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Other
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European (Finnish)
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East Asian
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African
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FS
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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QD
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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DP
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MQ
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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num of homozygotes: 0

European (Non-Finnish)
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Other
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Latino
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African
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South Asian
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European (Finnish)
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MQRankSum
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VQSLOD
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MQ
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FS
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ClippingRankSum
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BaseQRankSum
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DP
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QD
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InbreedingCoeff
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
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Latino
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African
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Other
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East Asian
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South Asian
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ClippingRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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MQ
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MQRankSum
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ReadPosRankSum
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QD
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
all individuals: 54
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7895
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1299
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 640
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 251
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3839
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29838
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2160
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 131
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4436
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 296
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1128
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3630
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 440
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 8.359999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.076e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.61e-2

DP
type: SiteQuality
SIO_000300: 2.50096e5

GenotypeQuality
all individuals: 174
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 153
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6970
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 760
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1541
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45656
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1571
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2068
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10110
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.137e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.307e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.46e-1

DP
type: SiteQuality
SIO_000300: 1.670401e6

FS
type: SiteQuality
SIO_000300: 1.001e0

QD
type: SiteQuality
SIO_000300: 6.17e0