1-13001176-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001176
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001176
    reference: chr 1
allele count: 66
allele frequency: 5.79526895316369e-4
allele num: 113886
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2110A>G
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.507A>G
  hgvsp: ENST00000376189.1:c.507A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.507A>G
  hgvsp: ENST00000415464.2:c.507A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.507A>G
  hgvsp: ENST00000355096.2:c.507A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5390
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 48493
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 9.75e1
  variant carriers: 58
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu169Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-13001177-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001177
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001177
    reference: chr 1
allele count: 1
allele frequency: 8.77531678893608e-6
allele num: 113956
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.506T>C
  hgvsp: ENSP00000347211.2:p.Leu169Pro
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.506T>C
  hgvsp: ENSP00000365360.1:p.Leu169Pro
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.506T>C
  hgvsp: ENSP00000401281.2:p.Leu169Pro
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2111T>C
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43657
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6586
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu169Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP

1-13001178-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001178
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001178
    reference: chr 1
allele count: 8
allele frequency: 7.016928339619331e-5
allele num: 114010
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.505C>T
  hgvsp: ENST00000376189.1:c.505C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.505C>T
  hgvsp: ENST00000415464.2:c.505C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.505C>T
  hgvsp: ENST00000355096.2:c.505C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2112C>T
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 48505
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6592
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu169Leu
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

http://identifiers.org/exac.variant/1-13001183-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001183
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001183
    reference: chr 1
allele count: 1
allele frequency: 8.751662815935028e-6
allele num: 114264
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.500T>G
  hgvsp: ENSP00000347211.2:p.Leu167Arg
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2117T>G
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.500T>G
  hgvsp: ENSP00000365360.1:p.Leu167Arg
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.500T>G
  hgvsp: ENSP00000401281.2:p.Leu167Arg
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5453
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43672
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1693
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1361
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu167Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD

1-13001183-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001183
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001183
    reference: chr 1
allele count: 1
allele frequency: 8.751662815935028e-6
allele num: 114264
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.500T>C
  hgvsp: ENSP00000365360.1:p.Leu167Pro
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.500T>C
  hgvsp: ENSP00000347211.2:p.Leu167Pro
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.500T>C
  hgvsp: ENSP00000401281.2:p.Leu167Pro
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2117T>C
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5453
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1693
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu167Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

1-13001185-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001185
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001185
    reference: chr 1
allele count: 1146
allele frequency: 1.0068352339618e-2
allele num: 113822
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.498C>A
  hgvsp: ENSP00000401281.2:p.Cys166Ter
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.498C>A
  hgvsp: ENSP00000347211.2:p.Cys166Ter
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.498C>A
  hgvsp: ENSP00000365360.1:p.Cys166Ter
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2119C>A
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 46944
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 5327
  bin: 2.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 3.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 3.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 9.75e1
  variant carriers: 333
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.25e1
  variant carriers: 80
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 8.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.25e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 6426
  bin: 6.75e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 42330
  bin: 6.25e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 1697
  bin: 7.75e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 7.25e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.75e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 7.5e0
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 8.25e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.5e0
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 2.25e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 9.75e1
  variant carriers: 641
hgvs: p.Cys166Ter
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD

1-13001186-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001186
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001186
    reference: chr 1
allele count: 69710
allele frequency: 6.013733846339654e-1
allele num: 115918
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.497G>A
  hgvsp: ENSP00000347211.2:p.Cys166Tyr
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.497G>A
  hgvsp: ENSP00000401281.2:p.Cys166Tyr
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2120G>A
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.497G>A
  hgvsp: ENSP00000365360.1:p.Cys166Tyr
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: InbreedingCoeff_Filter
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 6.75e1
  variant carriers: 2501
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 4.25e1
  variant carriers: 1685
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 3.75e1
  variant carriers: 1355
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 2.75e1
  variant carriers: 1000
genotype depth: GenotypeDepth
  all individuals: 26011
  bin: 9.75e1
  variant carriers: 26011
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 5.75e1
  variant carriers: 2340
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 8.25e1
  variant carriers: 2762
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 1.25e1
  variant carriers: 564
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 5.25e1
  variant carriers: 2198
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 3.25e1
  variant carriers: 1226
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 7.75e1
  variant carriers: 2696
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 7.5e0
  variant carriers: 629
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 8.75e1
  variant carriers: 2712
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 2.5e0
  variant carriers: 291
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 1.75e1
  variant carriers: 608
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 6.25e1
  variant carriers: 2466
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 7.25e1
  variant carriers: 2671
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 4.75e1
  variant carriers: 1925
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 2.25e1
  variant carriers: 768
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 9.25e1
  variant carriers: 2626
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 5.75e1
  variant carriers: 215
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 1.25e1
  variant carriers: 204
genotype quality: GenotypeQuality
  all individuals: 54883
  bin: 9.75e1
  variant carriers: 54883
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 6.25e1
  variant carriers: 241
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.75e1
  variant carriers: 321
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 5.25e1
  variant carriers: 238
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.75e1
  variant carriers: 106
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.25e1
  variant carriers: 153
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 7.5e0
  variant carriers: 205
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.75e1
  variant carriers: 175
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 7.75e1
  variant carriers: 275
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.5e0
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.25e1
  variant carriers: 157
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.75e1
  variant carriers: 173
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 7.25e1
  variant carriers: 283
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.25e1
  variant carriers: 159
hgvs: p.Cys166Tyr
num of homozygotes: 11754
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/1-13001187-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001187
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001187
    reference: chr 1
allele count: 1
allele frequency: 8.596530440314289e-6
allele num: 116326
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2121T>G
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.496T>G
  hgvsp: ENSP00000401281.2:p.Cys166Gly
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.496T>G
  hgvsp: ENSP00000347211.2:p.Cys166Gly
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.496T>G
  hgvsp: ENSP00000365360.1:p.Cys166Gly
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27421
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52300
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1966
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Cys166Gly
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

1-13001188-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001188
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001188
    reference: chr 1
allele count: 2
allele frequency: 1.719187855656988e-5
allele num: 116334
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.495C>T
  hgvsp: ENST00000376189.1:c.495C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.495C>T
  hgvsp: ENST00000415464.2:c.495C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.495C>T
  hgvsp: ENST00000355096.2:c.495C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2122C>T
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27421
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2007
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr165Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

1-13001189-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001189
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001189
    reference: chr 1
allele count: 1
allele frequency: 8.595791500481364e-6
allele num: 116336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.494C>T
  hgvsp: ENSP00000347211.2:p.Thr165Ile
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.494C>T
  hgvsp: ENSP00000365360.1:p.Thr165Ile
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2123C>T
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.494C>T
  hgvsp: ENSP00000401281.2:p.Thr165Ile
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27421
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2041
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52301
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr165Ile
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

1-13001190-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001190
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001190
    reference: chr 1
allele count: 2
allele frequency: 1.719542601667956e-5
allele num: 116310
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.493A>T
  hgvsp: ENSP00000365360.1:p.Thr165Ser
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2124A>T
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.493A>T
  hgvsp: ENSP00000347211.2:p.Thr165Ser
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.493A>T
  hgvsp: ENSP00000401281.2:p.Thr165Ser
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27421
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2056
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr165Ser
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: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

1-13001193-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001193
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001193
    reference: chr 1
allele count: 1
allele frequency: 8.592984687301287e-6
allele num: 116374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.490C>G
  hgvsp: ENSP00000347211.2:p.Leu164Val
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.490C>G
  hgvsp: ENSP00000401281.2:p.Leu164Val
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.490C>G
  hgvsp: ENSP00000365360.1:p.Leu164Val
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2127C>G
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27421
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52296
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu164Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD

1-13001194-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001194
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001194
    reference: chr 1
allele count: 2
allele frequency: 1.718715088599763e-5
allele num: 116366
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2128C>G
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.489C>G
  hgvsp: ENSP00000401281.2:p.Tyr163Ter
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.489C>G
  hgvsp: ENSP00000347211.2:p.Tyr163Ter
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.489C>G
  hgvsp: ENSP00000365360.1:p.Tyr163Ter
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27421
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52299
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2235
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Tyr163Ter
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP

1-13001194-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001194
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001194
    reference: chr 1
allele count: 1
allele frequency: 8.593575442998814e-6
allele num: 116366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2128C>A
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.489C>A
  hgvsp: ENSP00000347211.2:p.Tyr163Ter
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.489C>A
  hgvsp: ENSP00000401281.2:p.Tyr163Ter
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.489C>A
  hgvsp: ENSP00000365360.1:p.Tyr163Ter
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27421
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2235
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr163Ter
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

1-13001195-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001195
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001195
    reference: chr 1
allele count: 2
allele frequency: 1.718774170261769e-5
allele num: 116362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2129A>T
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.488A>T
  hgvsp: ENSP00000401281.2:p.Tyr163Phe
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.488A>T
  hgvsp: ENSP00000365360.1:p.Tyr163Phe
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.488A>T
  hgvsp: ENSP00000347211.2:p.Tyr163Phe
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27422
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2229
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Tyr163Phe
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

1-13001196-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001196
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001196
    reference: chr 1
allele count: 48
allele frequency: 4.124774426398556e-4
allele num: 116370
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2130T>C
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.487T>C
  hgvsp: ENSP00000401281.2:p.Tyr163His
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.487T>C
  hgvsp: ENSP00000347211.2:p.Tyr163His
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.487T>C
  hgvsp: ENSP00000365360.1:p.Tyr163His
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27430
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 52253
  bin: 9.75e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 2262
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.75e1
  variant carriers: 1
hgvs: p.Tyr163His
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/1-13001199-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001199
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001199
    reference: chr 1
allele count: 9
allele frequency: 7.729833722687921e-5
allele num: 116432
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2133G>T
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.484G>T
  hgvsp: ENSP00000365360.1:p.Glu162Ter
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.484G>T
  hgvsp: ENSP00000401281.2:p.Glu162Ter
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.484G>T
  hgvsp: ENSP00000347211.2:p.Glu162Ter
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27434
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52298
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu162Ter
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD

1-13001202-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001202
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001202
    reference: chr 1
allele count: 1
allele frequency: 8.585164835164835e-6
allele num: 116480
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.481G>A
  hgvsp: ENSP00000347211.2:p.Asp161Asn
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.481G>A
  hgvsp: ENSP00000401281.2:p.Asp161Asn
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.481G>A
  hgvsp: ENSP00000365360.1:p.Asp161Asn
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2136G>A
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27434
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2356
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52298
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp161Asn
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

1-13001209-CCTGTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001209
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001204
    reference: chr 1
allele count: 1
allele frequency: 8.578389321620972e-6
allele num: 116572
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.469_473delAACAG
  hgvsp: ENSP00000401281.2:p.Asn157AspfsTer4
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.469_473delAACAG
  hgvsp: ENSP00000347211.2:p.Asn157AspfsTer4
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2148_870-2144delAACAG
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.469_473delAACAG
  hgvsp: ENSP00000365360.1:p.Asn157AspfsTer4
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27434
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2209
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn157AspfsTer4
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: CCTGTT
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ

1-13001211-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001211
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001211
    reference: chr 1
allele count: 2
allele frequency: 1.714912882425573e-5
allele num: 116624
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.472A>C
  hgvsp: ENST00000355096.2:c.472A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.472A>C
  hgvsp: ENST00000376189.1:c.472A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2145A>C
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.472A>C
  hgvsp: ENST00000415464.2:c.472A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27437
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2270
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52305
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg158Arg
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

1-13001217-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001217
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001217
    reference: chr 1
allele count: 4
allele frequency: 3.425713404816553e-5
allele num: 116764
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2151A>G
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.466A>G
  hgvsp: ENSP00000365360.1:p.Lys156Glu
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.466A>G
  hgvsp: ENSP00000401281.2:p.Lys156Glu
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.466A>G
  hgvsp: ENSP00000347211.2:p.Lys156Glu
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27439
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52309
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2245
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys156Glu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

1-13001218-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001218
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001218
    reference: chr 1
allele count: 2
allele frequency: 1.712094233666621e-5
allele num: 116816
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.465C>T
  hgvsp: ENST00000376189.1:c.465C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.465C>T
  hgvsp: ENST00000415464.2:c.465C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2152C>T
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.465C>T
  hgvsp: ENST00000355096.2:c.465C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27440
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu155Leu
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/1-13001219-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001219
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001219
    reference: chr 1
allele count: 1
allele frequency: 8.557980316645272e-6
allele num: 116850
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.464T>G
  hgvsp: ENSP00000347211.2:p.Leu155Arg
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.464T>G
  hgvsp: ENSP00000401281.2:p.Leu155Arg
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2153T>G
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.464T>G
  hgvsp: ENSP00000365360.1:p.Leu155Arg
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27440
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1531
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52309
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu155Arg
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD

1-13001219-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001219
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001219
    reference: chr 1
allele count: 1
allele frequency: 8.557980316645272e-6
allele num: 116850
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.464T>A
  hgvsp: ENSP00000365360.1:p.Leu155His
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2153T>A
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.464T>A
  hgvsp: ENSP00000347211.2:p.Leu155His
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.464T>A
  hgvsp: ENSP00000401281.2:p.Leu155His
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27440
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52309
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1531
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu155His
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

1-13001220-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001220
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001220
    reference: chr 1
allele count: 4
allele frequency: 3.422079255355554e-5
allele num: 116888
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.463C>G
  hgvsp: ENSP00000365360.1:p.Leu155Val
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2154C>G
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.463C>G
  hgvsp: ENSP00000347211.2:p.Leu155Val
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.463C>G
  hgvsp: ENSP00000401281.2:p.Leu155Val
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27446
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu155Val
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum

1-13001221-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001221
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001221
    reference: chr 1
allele count: 2
allele frequency: 1.712064921501823e-5
allele num: 116818
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.462G>C
  hgvsp: ENSP00000365360.1:p.Trp154Cys
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.462G>C
  hgvsp: ENSP00000401281.2:p.Trp154Cys
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2155G>C
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.462G>C
  hgvsp: ENSP00000347211.2:p.Trp154Cys
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27500
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2202
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Trp154Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

1-13001221-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001221
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001221
    reference: chr 1
allele count: 177
allele frequency: 1.515177455529114e-3
allele num: 116818
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.462G>A
  hgvsp: ENSP00000401281.2:p.Trp154Ter
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.462G>A
  hgvsp: ENSP00000347211.2:p.Trp154Ter
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.462G>A
  hgvsp: ENSP00000365360.1:p.Trp154Ter
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2155G>A
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 3.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 2.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 2.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 3.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 27500
  bin: 9.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 7.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 8.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 7.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2202
  bin: 6.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 8.25e1
  variant carriers: 8
hgvs: p.Trp154Ter
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/1-13001222-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001222
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001222
    reference: chr 1
allele count: 1
allele frequency: 8.551832657738554e-6
allele num: 116934
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.461G>T
  hgvsp: ENSP00000365360.1:p.Trp154Leu
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.461G>T
  hgvsp: ENSP00000401281.2:p.Trp154Leu
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2156G>T
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.461G>T
  hgvsp: ENSP00000347211.2:p.Trp154Leu
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27503
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2192
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1647
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52296
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Trp154Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-13001222-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001222
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001222
    reference: chr 1
allele count: 3
allele frequency: 2.565549797321566e-5
allele num: 116934
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2156G>C
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.461G>C
  hgvsp: ENSP00000401281.2:p.Trp154Ser
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.461G>C
  hgvsp: ENSP00000365360.1:p.Trp154Ser
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.461G>C
  hgvsp: ENSP00000347211.2:p.Trp154Ser
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27503
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1647
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2192
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Trp154Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

1-13001224-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001224
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001224
    reference: chr 1
allele count: 1
allele frequency: 8.554905382746468e-6
allele num: 116892
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.459T>C
  hgvsp: ENST00000355096.2:c.459T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2158T>C
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.459T>C
  hgvsp: ENST00000376189.1:c.459T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.459T>C
  hgvsp: ENST00000415464.2:c.459T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27504
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52296
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1649
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2079
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu153Leu
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP

1-13001228-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001228
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001228
    reference: chr 1
allele count: 3
allele frequency: 2.566295979469632e-5
allele num: 116900
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.455A>T
  hgvsp: ENSP00000347211.2:p.Glu152Val
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.455A>T
  hgvsp: ENSP00000401281.2:p.Glu152Val
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2162A>T
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.455A>T
  hgvsp: ENSP00000365360.1:p.Glu152Val
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27504
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52296
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu152Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum

1-13001229-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001229
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001229
    reference: chr 1
allele count: 1
allele frequency: 8.554759012438619e-6
allele num: 116894
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.454G>A
  hgvsp: ENSP00000347211.2:p.Glu152Lys
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2163G>A
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.454G>A
  hgvsp: ENSP00000365360.1:p.Glu152Lys
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.454G>A
  hgvsp: ENSP00000401281.2:p.Glu152Lys
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27504
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52296
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu152Lys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

1-13001230-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001230
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001230
    reference: chr 1
allele count: 1
allele frequency: 8.555198138388885e-6
allele num: 116888
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2164A>G
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.453A>G
  hgvsp: ENST00000415464.2:c.453A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.453A>G
  hgvsp: ENST00000355096.2:c.453A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.453A>G
  hgvsp: ENST00000376189.1:c.453A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27505
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1977
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1633
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52297
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val151Val
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/1-13001232-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001232
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001232
    reference: chr 1
allele count: 1
allele frequency: 8.582954252853832e-6
allele num: 116510
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.451G>T
  hgvsp: ENSP00000365360.1:p.Val151Leu
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.451G>T
  hgvsp: ENSP00000401281.2:p.Val151Leu
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2166G>T
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.451G>T
  hgvsp: ENSP00000347211.2:p.Val151Leu
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27510
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1526
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1759
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val151Leu
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

1-13001232-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001232
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001232
    reference: chr 1
allele count: 14
allele frequency: 1.201613595399537e-4
allele num: 116510
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.451G>A
  hgvsp: ENSP00000365360.1:p.Val151Ile
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.451G>A
  hgvsp: ENSP00000401281.2:p.Val151Ile
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.451G>A
  hgvsp: ENSP00000347211.2:p.Val151Ile
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2166G>A
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27510
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52300
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 1759
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1526
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val151Ile
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-13001233-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001233
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001233
    reference: chr 1
allele count: 2
allele frequency: 1.715383559763963e-5
allele num: 116592
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.450C>A
  hgvsp: ENSP00000347211.2:p.Phe150Leu
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.450C>A
  hgvsp: ENSP00000401281.2:p.Phe150Leu
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2167C>A
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.450C>A
  hgvsp: ENSP00000365360.1:p.Phe150Leu
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27512
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Phe150Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/1-13001235-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001235
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001235
    reference: chr 1
allele count: 1
allele frequency: 8.604222952625148e-6
allele num: 116222
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.448T>G
  hgvsp: ENSP00000401281.2:p.Phe150Val
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.448T>G
  hgvsp: ENSP00000347211.2:p.Phe150Val
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2169T>G
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.448T>G
  hgvsp: ENSP00000365360.1:p.Phe150Val
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27513
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52301
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1417
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Phe150Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

1-13001235-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001235
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001235
    reference: chr 1
allele count: 4
allele frequency: 3.441689181050059e-5
allele num: 116222
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.448T>C
  hgvsp: ENSP00000401281.2:p.Phe150Leu
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.448T>C
  hgvsp: ENSP00000365360.1:p.Phe150Leu
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.448T>C
  hgvsp: ENSP00000347211.2:p.Phe150Leu
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2169T>C
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27513
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1730
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1417
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Phe150Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

1-13001238-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001238
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001238
    reference: chr 1
allele count: 3
allele frequency: 2.608877139279254e-5
allele num: 114992
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.445G>C
  hgvsp: ENSP00000401281.2:p.Val149Leu
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.445G>C
  hgvsp: ENSP00000365360.1:p.Val149Leu
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.445G>C
  hgvsp: ENSP00000347211.2:p.Val149Leu
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2172G>C
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27513
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52301
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val149Leu
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-13001242-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001242
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001242
    reference: chr 1
allele count: 2
allele frequency: 1.747885059078515e-5
allele num: 114424
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2176G>C
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.441G>C
  hgvsp: ENSP00000365360.1:p.Leu147Phe
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.441G>C
  hgvsp: ENSP00000401281.2:p.Leu147Phe
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.441G>C
  hgvsp: ENSP00000347211.2:p.Leu147Phe
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27514
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1675
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu147Phe
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD

1-13001244-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001244
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001244
    reference: chr 1
allele count: 1
allele frequency: 8.724176437744277e-6
allele num: 114624
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.439T>C
  hgvsp: ENST00000376189.1:c.439T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.439T>C
  hgvsp: ENST00000415464.2:c.439T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.439T>C
  hgvsp: ENST00000355096.2:c.439T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2178T>C
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27514
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52305
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu147Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

1-13001248-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001248
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001248
    reference: chr 1
allele count: 125
allele frequency: 1.088698439241918e-3
allele num: 114816
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.435G>C
  hgvsp: ENSP00000347211.2:p.Gln145His
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2182G>C
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.435G>C
  hgvsp: ENSP00000401281.2:p.Gln145His
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.435G>C
  hgvsp: ENSP00000365360.1:p.Gln145His
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27573
  bin: 9.75e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln145His
num of homozygotes: 37
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-13001252-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001252
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001252
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 114472
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.431A>T
  hgvsp: ENSP00000347211.2:p.Gln144Leu
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.431A>T
  hgvsp: ENSP00000365360.1:p.Gln144Leu
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2186A>T
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.431A>T
  hgvsp: ENSP00000401281.2:p.Gln144Leu
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 2427
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27592
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1759
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln144Leu
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-13001252-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001252
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001252
    reference: chr 1
allele count: 81
allele frequency: 7.07596617513453e-4
allele num: 114472
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.431A>G
  hgvsp: ENSP00000347211.2:p.Gln144Arg
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.431A>G
  hgvsp: ENSP00000365360.1:p.Gln144Arg
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2186A>G
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.431A>G
  hgvsp: ENSP00000401281.2:p.Gln144Arg
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27592
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 2.5e0
  variant carriers: 94
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 7.5e0
  variant carriers: 106
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2427
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 2.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 7.5e0
  variant carriers: 58
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 2.5e0
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1759
  bin: 6.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 7.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 6.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.25e1
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 2.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 8.25e1
  variant carriers: 4
hgvs: p.Gln144Arg
num of homozygotes: 9
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-13001252-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001252
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001252
    reference: chr 1
allele count: 1
allele frequency: 8.73576071004263e-6
allele num: 114472
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.431A>C
  hgvsp: ENSP00000365360.1:p.Gln144Pro
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2186A>C
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.431A>C
  hgvsp: ENSP00000347211.2:p.Gln144Pro
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.431A>C
  hgvsp: ENSP00000401281.2:p.Gln144Pro
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27592
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2427
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52322
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gln144Pro
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

1-13001254-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001254
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001254
    reference: chr 1
allele count: 1
allele frequency: 8.4888202237653e-6
allele num: 117802
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.429A>G
  hgvsp: ENST00000415464.2:c.429A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2188A>G
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.429A>G
  hgvsp: ENST00000355096.2:c.429A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.429A>G
  hgvsp: ENST00000376189.1:c.429A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27596
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52569
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly143Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

1-13001254-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001254
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001253
    reference: chr 1
allele count: 2
allele frequency: 1.69776404475306e-5
allele num: 117802
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.428delG
  hgvsp: ENSP00000401281.2:p.Gly143AspfsTer5
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.428delG
  hgvsp: ENSP00000365360.1:p.Gly143AspfsTer5
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.428delG
  hgvsp: ENSP00000347211.2:p.Gly143AspfsTer5
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2189delG
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27596
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2137
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly143AspfsTer5
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: TC
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

1-13001256-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001256
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001256
    reference: chr 1
allele count: 2
allele frequency: 1.689189189189189e-5
allele num: 118400
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.427G>C
  hgvsp: ENSP00000365360.1:p.Gly143Arg
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.427G>C
  hgvsp: ENSP00000347211.2:p.Gly143Arg
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2190G>C
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.427G>C
  hgvsp: ENSP00000401281.2:p.Gly143Arg
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27597
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2371
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly143Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-13001257-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001257
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001257
    reference: chr 1
allele count: 2
allele frequency: 1.687165730289686e-5
allele num: 118542
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.426A>G
  hgvsp: ENST00000355096.2:c.426A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.426A>G
  hgvsp: ENST00000415464.2:c.426A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.426A>G
  hgvsp: ENST00000376189.1:c.426A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2191A>G
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27598
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2402
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52599
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg142Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

1-13001258-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001258
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001258
    reference: chr 1
allele count: 1
allele frequency: 8.432129787341686e-6
allele num: 118594
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.425G>C
  hgvsp: ENSP00000401281.2:p.Arg142Thr
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.425G>C
  hgvsp: ENSP00000365360.1:p.Arg142Thr
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.425G>C
  hgvsp: ENSP00000347211.2:p.Arg142Thr
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2192G>C
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27606
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52600
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2429
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg142Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

1-13001258-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001258
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001258
    reference: chr 1
allele count: 4
allele frequency: 3.372851914936674e-5
allele num: 118594
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.425G>A
  hgvsp: ENSP00000365360.1:p.Arg142Lys
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2192G>A
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.425G>A
  hgvsp: ENSP00000401281.2:p.Arg142Lys
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.425G>A
  hgvsp: ENSP00000347211.2:p.Arg142Lys
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27606
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2429
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg142Lys
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS

1-13001263-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001263
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001263
    reference: chr 1
allele count: 7
allele frequency: 5.891759952865921e-5
allele num: 118810
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2197G>A
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.420G>A
  hgvsp: ENST00000415464.2:c.420G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.420G>A
  hgvsp: ENST00000355096.2:c.420G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.420G>A
  hgvsp: ENST00000376189.1:c.420G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27611
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52613
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg140Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

1-13001264-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001264
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001264
    reference: chr 1
allele count: 3
allele frequency: 2.524360074721058e-5
allele num: 118842
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.419G>C
  hgvsp: ENSP00000365360.1:p.Arg140Thr
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2198G>C
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.419G>C
  hgvsp: ENSP00000401281.2:p.Arg140Thr
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.419G>C
  hgvsp: ENSP00000347211.2:p.Arg140Thr
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27612
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2525
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg140Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

1-13001269-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001269
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001269
    reference: chr 1
allele count: 6
allele frequency: 5.031784102916757e-5
allele num: 119242
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.414T>C
  hgvsp: ENST00000376189.1:c.414T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.414T>C
  hgvsp: ENST00000415464.2:c.414T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.414T>C
  hgvsp: ENST00000355096.2:c.414T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2203T>C
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27616
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52618
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2690
  bin: 6.25e1
  variant carriers: 1
hgvs: p.Cys138Cys
num of homozygotes: 1
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

1-13001273-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001273
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001273
    reference: chr 1
allele count: 1
allele frequency: 8.367500627562547e-6
allele num: 119510
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.410A>C
  hgvsp: ENSP00000401281.2:p.Asp137Ala
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.410A>C
  hgvsp: ENSP00000365360.1:p.Asp137Ala
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2207A>C
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.410A>C
  hgvsp: ENSP00000347211.2:p.Asp137Ala
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27617
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52620
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp137Ala
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

1-13001274-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001274
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001274
    reference: chr 1
allele count: 1
allele frequency: 8.361064196250898e-6
allele num: 119602
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2208G>C
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.409G>C
  hgvsp: ENSP00000365360.1:p.Asp137His
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.409G>C
  hgvsp: ENSP00000401281.2:p.Asp137His
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.409G>C
  hgvsp: ENSP00000347211.2:p.Asp137His
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27618
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2869
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp137His
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD

1-13001274-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001274
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001274
    reference: chr 1
allele count: 1
allele frequency: 8.361064196250898e-6
allele num: 119602
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.409G>A
  hgvsp: ENSP00000365360.1:p.Asp137Asn
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.409G>A
  hgvsp: ENSP00000347211.2:p.Asp137Asn
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2208G>A
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.409G>A
  hgvsp: ENSP00000401281.2:p.Asp137Asn
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27618
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2869
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52620
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp137Asn
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD

1-13001275-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001275
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001275
    reference: chr 1
allele count: 1
allele frequency: 8.357849692431131e-6
allele num: 119648
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.408G>A
  hgvsp: ENST00000355096.2:c.408G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.408G>A
  hgvsp: ENST00000415464.2:c.408G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2209G>A
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.408G>A
  hgvsp: ENST00000376189.1:c.408G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27617
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2901
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln136Gln
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP

1-13001277-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001277
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001277
    reference: chr 1
allele count: 1
allele frequency: 8.351707088928977e-6
allele num: 119736
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.406C>T
  hgvsp: ENSP00000365360.1:p.Gln136Ter
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.406C>T
  hgvsp: ENSP00000401281.2:p.Gln136Ter
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.406C>T
  hgvsp: ENSP00000347211.2:p.Gln136Ter
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2211C>T
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27633
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52596
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2959
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln136Ter
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

1-13001277-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001277
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001277
    reference: chr 1
allele count: 10
allele frequency: 8.351707088928977e-5
allele num: 119736
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2211C>G
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.406C>G
  hgvsp: ENSP00000347211.2:p.Gln136Glu
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.406C>G
  hgvsp: ENSP00000365360.1:p.Gln136Glu
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.406C>G
  hgvsp: ENSP00000401281.2:p.Gln136Glu
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27633
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2959
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52596
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln136Glu
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ

1-13001279-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001279
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001279
    reference: chr 1
allele count: 1
allele frequency: 8.338475393159114e-6
allele num: 119926
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.404T>C
  hgvsp: ENSP00000401281.2:p.Val135Ala
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.404T>C
  hgvsp: ENSP00000365360.1:p.Val135Ala
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.404T>C
  hgvsp: ENSP00000347211.2:p.Val135Ala
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2213T>C
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27633
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52619
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val135Ala
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum

1-13001280-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001280
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001280
    reference: chr 1
allele count: 2
allele frequency: 1.667194611627015e-5
allele num: 119962
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.403G>C
  hgvsp: ENSP00000347211.2:p.Val135Leu
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.403G>C
  hgvsp: ENSP00000401281.2:p.Val135Leu
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.403G>C
  hgvsp: ENSP00000365360.1:p.Val135Leu
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2214G>C
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27634
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3040
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val135Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

1-13001281-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001281
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001281
    reference: chr 1
allele count: 1
allele frequency: 8.334027835652971e-6
allele num: 119990
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.402A>C
  hgvsp: ENST00000415464.2:c.402A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.402A>C
  hgvsp: ENST00000376189.1:c.402A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.402A>C
  hgvsp: ENST00000355096.2:c.402A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2215A>C
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27634
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3632
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3052
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52621
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro134Pro
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

1-13001283-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001283
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001283
    reference: chr 1
allele count: 2
allele frequency: 1.665445340083938e-5
allele num: 120088
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.400C>G
  hgvsp: ENSP00000365360.1:p.Pro134Ala
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.400C>G
  hgvsp: ENSP00000347211.2:p.Pro134Ala
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2217C>G
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.400C>G
  hgvsp: ENSP00000401281.2:p.Pro134Ala
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27634
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3095
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro134Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD

1-13001284-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001284
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001284
    reference: chr 1
allele count: 16
allele frequency: 1.332356272067151e-4
allele num: 120088
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2218A>G
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.399A>G
  hgvsp: ENST00000415464.2:c.399A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.399A>G
  hgvsp: ENST00000376189.1:c.399A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.399A>G
  hgvsp: ENST00000355096.2:c.399A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27647
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52616
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3065
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr133Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

1-13001287-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001287
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001287
    reference: chr 1
allele count: 1
allele frequency: 8.325424180361989e-6
allele num: 120114
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.396A>G
  hgvsp: ENST00000415464.2:c.396A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2221A>G
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.396A>G
  hgvsp: ENST00000355096.2:c.396A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.396A>G
  hgvsp: ENST00000376189.1:c.396A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27648
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2888
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys132Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ

1-13001290-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001290
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001290
    reference: chr 1
allele count: 1
allele frequency: 8.325562808045825e-6
allele num: 120112
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.393C>G
  hgvsp: ENSP00000347211.2:p.Asn131Lys
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.393C>G
  hgvsp: ENSP00000401281.2:p.Asn131Lys
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.393C>G
  hgvsp: ENSP00000365360.1:p.Asn131Lys
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2224C>G
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27650
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2836
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn131Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

1-13001290-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001290
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001290
    reference: chr 1
allele count: 8
allele frequency: 6.66045024643666e-5
allele num: 120112
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.393C>A
  hgvsp: ENSP00000365360.1:p.Asn131Lys
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.393C>A
  hgvsp: ENSP00000401281.2:p.Asn131Lys
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.393C>A
  hgvsp: ENSP00000347211.2:p.Asn131Lys
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2224C>A
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27650
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52623
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2836
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asn131Lys
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS

1-13001291-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001291
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001291
    reference: chr 1
allele count: 21
allele frequency: 1.748280857157129e-4
allele num: 120118
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.392A>T
  hgvsp: ENSP00000365360.1:p.Asn131Ile
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.392A>T
  hgvsp: ENSP00000347211.2:p.Asn131Ile
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.392A>T
  hgvsp: ENSP00000401281.2:p.Asn131Ile
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2225A>T
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27655
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2836
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn131Ile
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

1-13001292-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001292
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001292
    reference: chr 1
allele count: 1
allele frequency: 8.325285557294615e-6
allele num: 120116
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.391A>G
  hgvsp: ENSP00000347211.2:p.Asn131Asp
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.391A>G
  hgvsp: ENSP00000365360.1:p.Asn131Asp
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.391A>G
  hgvsp: ENSP00000401281.2:p.Asn131Asp
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2226A>G
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27656
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52625
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn131Asp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-13001293-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001293
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001293
    reference: chr 1
allele count: 6
allele frequency: 4.994838666711065e-5
allele num: 120124
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.390G>T
  hgvsp: ENSP00000401281.2:p.Arg130Ser
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.390G>T
  hgvsp: ENSP00000347211.2:p.Arg130Ser
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.390G>T
  hgvsp: ENSP00000365360.1:p.Arg130Ser
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2227G>T
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27661
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52625
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 9.25e1
  variant carriers: 1
hgvs: p.Arg130Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

1-13001293-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001293
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001293
    reference: chr 1
allele count: 1
allele frequency: 8.324731111185109e-6
allele num: 120124
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.390G>A
  hgvsp: ENST00000376189.1:c.390G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.390G>A
  hgvsp: ENST00000355096.2:c.390G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.390G>A
  hgvsp: ENST00000415464.2:c.390G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2227G>A
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27661
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2778
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg130Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

1-13001294-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001294
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001294
    reference: chr 1
allele count: 4
allele frequency: 3.33000333000333e-5
allele num: 120120
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.389G>A
  hgvsp: ENSP00000365360.1:p.Arg130Lys
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2228G>A
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.389G>A
  hgvsp: ENSP00000347211.2:p.Arg130Lys
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.389G>A
  hgvsp: ENSP00000401281.2:p.Arg130Lys
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27661
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2765
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52625
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg130Lys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD

1-13001296-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001296
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001296
    reference: chr 1
allele count: 1
allele frequency: 8.324592511196577e-6
allele num: 120126
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.387G>C
  hgvsp: ENSP00000347211.2:p.Lys129Asn
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2230G>C
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.387G>C
  hgvsp: ENSP00000401281.2:p.Lys129Asn
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.387G>C
  hgvsp: ENSP00000365360.1:p.Lys129Asn
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27662
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys129Asn
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

1-13001299-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13001299
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 13001299
    reference: chr 1
allele count: 5
allele frequency: 4.162226957911561e-5
allele num: 120128
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000401281
  ensembl transcript: ENST00000415464
  gene symbol: PRAMEF6
  hgvsc: ENST00000415464.2:c.384C>G
  hgvsp: ENST00000415464.2:c.384C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365363
  ensembl transcript: ENST00000376192
  gene symbol: PRAMEF6
  hgvsc: ENST00000376192.5:c.870-2233C>G
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000365360
  ensembl transcript: ENST00000376189
  gene symbol: PRAMEF6
  hgvsc: ENST00000376189.1:c.384C>G
  hgvsp: ENST00000376189.1:c.384C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000232423
  ensembl protein: ENSP00000347211
  ensembl transcript: ENST00000355096
  gene symbol: PRAMEF6
  hgvsc: ENST00000355096.2:c.384C>G
  hgvsp: ENST00000355096.2:c.384C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30583
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27663
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2729
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala128Ala
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 597
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1337
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 6581
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 43637
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.854258898530193e-5
allele num: 11294
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8228
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16158
num of homozygotes: 0

African
type: Population
allele count: 64
allele frequency: 7.887601676115356e-3
allele num: 8114
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.596220150683182e-5
allele num: 62648
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 2.378e1

VQSLOD
type: SiteQuality
SIO_000300: -5.827e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.95e0

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

DP
type: SiteQuality
SIO_000300: 1.295301e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 4.43e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.01e-1

GenotypeQuality
all individuals: 52
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1335
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 720
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.595456140910686e-5
allele num: 62678
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8232
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11300
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8130
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16168
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.89e0

QD
type: SiteQuality
SIO_000300: 2.29e0

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.769e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 2.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.54e-1

DP
type: SiteQuality
SIO_000300: 1.296298e6

GenotypeQuality
all individuals: 601
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1677
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43646
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.213886865744113e-4
allele num: 8238
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8146
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11300
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16178
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.116463045073208e-4
allele num: 62698
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.297665e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.754e0

VQSLOD
type: SiteQuality
SIO_000300: -5.664e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.03e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.7e-2

QD
type: SiteQuality
SIO_000300: 3.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 2.465e1

GenotypeQuality
all individuals: 748
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 998
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6615
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1352
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8256
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11324
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16196
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.591089896579157e-5
allele num: 62850
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8180
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.92e0

MQRankSum
type: SiteQuality
SIO_000300: -7.55e-1

DP
type: SiteQuality
SIO_000300: 1.301027e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

QD
type: SiteQuality
SIO_000300: 9.9e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 2.363e1

VQSLOD
type: SiteQuality
SIO_000300: -6.042e0

GenotypeQuality
all individuals: 748
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 43672
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1361
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6615
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16196
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8256
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11324
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.591089896579157e-5
allele num: 62850
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8180
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.042e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.33e-1

DP
type: SiteQuality
SIO_000300: 1.301027e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.92e0

MQRankSum
type: SiteQuality
SIO_000300: -7.55e-1

QD
type: SiteQuality
SIO_000300: 9.9e-1

MQ
type: SiteQuality
SIO_000300: 2.363e1

GenotypeQuality
all individuals: 89
bin: 4.75e1
variant carriers: 33

GenotypeQuality
all individuals: 91
bin: 4.25e1
variant carriers: 32

GenotypeQuality
all individuals: 167
bin: 3.25e1
variant carriers: 33

GenotypeQuality
all individuals: 808
bin: 9.25e1
variant carriers: 39

Latino
type: Population
allele count: 43
allele frequency: 3.796574253929013e-3
allele num: 11326
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8264
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 132
allele frequency: 2.015267175572519e-2
allele num: 6550
num of homozygotes: 0

South Asian
type: Population
allele count: 45
allele frequency: 2.779836916234248e-3
allele num: 16188
num of homozygotes: 0

African
type: Population
allele count: 41
allele frequency: 5.007327796775769e-3
allele num: 8188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 877
allele frequency: 1.404548366431775e-2
allele num: 62440
num of homozygotes: 0

Other
type: Population
allele count: 8
allele frequency: 9.237875288683603e-3
allele num: 866
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.065e0

QD
type: SiteQuality
SIO_000300: 1.36e0

MQRankSum
type: SiteQuality
SIO_000300: -1.954e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.32e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQ
type: SiteQuality
SIO_000300: 2.267e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.069e0

DP
type: SiteQuality
SIO_000300: 1.41853e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -6.498e0

GenotypeQuality
all individuals: 367
bin: 9.25e1
variant carriers: 367

GenotypeQuality
all individuals: 149
bin: 3.75e1
variant carriers: 149

GenotypeQuality
all individuals: 322
bin: 6.75e1
variant carriers: 322

GenotypeQuality
all individuals: 361
bin: 8.25e1
variant carriers: 361

South Asian
type: Population
allele count: 10110
allele frequency: 6.174422865518505e-1
allele num: 16374
num of homozygotes: 1923

European (Non-Finnish)
type: Population
allele count: 36865
allele frequency: 5.788556354614829e-1
allele num: 63686
num of homozygotes: 5024

Latino
type: Population
allele count: 6963
allele frequency: 6.091863517060367e-1
allele num: 11430
num of homozygotes: 1248

European (Finnish)
type: Population
allele count: 3807
allele frequency: 5.769930281903607e-1
allele num: 6598
num of homozygotes: 508

Other
type: Population
allele count: 519
allele frequency: 5.871040723981901e-1
allele num: 884
num of homozygotes: 77

African
type: Population
allele count: 6692
allele frequency: 7.841574876962737e-1
allele num: 8534
num of homozygotes: 2426

East Asian
type: Population
allele count: 4754
allele frequency: 5.651450309082263e-1
allele num: 8412
num of homozygotes: 548

VQSLOD
type: SiteQuality
SIO_000300: 1.1967e2

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.09e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.101e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.585e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.675e0

DP
type: SiteQuality
SIO_000300: 5.427659e6

MQ
type: SiteQuality
SIO_000300: 2.347e1

GenotypeQuality
all individuals: 325
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 232
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63914
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.164958061509786e-4
allele num: 8584
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 2.452e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.92e0

QD
type: SiteQuality
SIO_000300: 5.3e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.682e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

DP
type: SiteQuality
SIO_000300: 5.563859e6

GenotypeQuality
all individuals: 570
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52301
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 321
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.129009042836134e-5
allele num: 63918
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.97e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e-1

DP
type: SiteQuality
SIO_000300: 5.564163e6

QD
type: SiteQuality
SIO_000300: 4.8e-1

MQ
type: SiteQuality
SIO_000300: 2.391e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.918e0

GenotypeQuality
all individuals: 629
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63930
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.713837574067619e-5
allele num: 11476
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.7e-1

DP
type: SiteQuality
SIO_000300: 5.564571e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.75e0

MQRankSum
type: SiteQuality
SIO_000300: -1.322e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -6.268e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 2.265e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.83e-1

GenotypeQuality
all individuals: 117
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52296
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63928
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 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
allele num: 11470
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.220852154804053e-4
allele num: 16382
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.98e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e-2

VQSLOD
type: SiteQuality
SIO_000300: -6.133e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.4e-2

QD
type: SiteQuality
SIO_000300: 2.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.629999999999999e-1

DP
type: SiteQuality
SIO_000300: 5.564907e6

MQ
type: SiteQuality
SIO_000300: 2.353e1

GenotypeQuality
all individuals: 2207
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.563477173233271e-5
allele num: 63960
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 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
allele num: 11476
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.57e-1

MQ
type: SiteQuality
SIO_000300: 2.37e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.924e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -5.946e0

DP
type: SiteQuality
SIO_000300: 5.566638e6

QD
type: SiteQuality
SIO_000300: 2.58e0

GenotypeQuality
all individuals: 85
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 1.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.126856571089084e-5
allele num: 63962
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e0

VQSLOD
type: SiteQuality
SIO_000300: -7.937e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

FS
type: SiteQuality
SIO_000300: 2.0734e1

MQRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

MQ
type: SiteQuality
SIO_000300: 2.387e1

QD
type: SiteQuality
SIO_000300: 4.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

DP
type: SiteQuality
SIO_000300: 5.567348e6

GenotypeQuality
all individuals: 450
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52299
bin: 9.75e1
variant carriers: 1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.563428285544542e-5
allele num: 63962
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.0734e1

DP
type: SiteQuality
SIO_000300: 5.567348e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

QD
type: SiteQuality
SIO_000300: 4.1e0

MQRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e0

MQ
type: SiteQuality
SIO_000300: 2.387e1

VQSLOD
type: SiteQuality
SIO_000300: -7.937e0

GenotypeQuality
all individuals: 896
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52296
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16378
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.126465530717524e-5
allele num: 63970
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e-1

DP
type: SiteQuality
SIO_000300: 5.567818e6

VQSLOD
type: SiteQuality
SIO_000300: -5.978e0

QD
type: SiteQuality
SIO_000300: 1.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

MQ
type: SiteQuality
SIO_000300: 2.356e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.32e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.45e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.76e0

GenotypeQuality
all individuals: 328
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 468
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 325
bin: 8.75e1
variant carriers: 3

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

Latino
type: Population
allele count: 4
allele frequency: 3.487358326068004e-4
allele num: 11470
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 7.092198581560284e-4
allele num: 8460
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.826147751106968e-4
allele num: 8582
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 3.125586047383884e-4
allele num: 63988
num of homozygotes: 0

South Asian
type: Population
allele count: 13
allele frequency: 7.938446507083537e-4
allele num: 16376
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.32e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.543e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.32e0

QD
type: SiteQuality
SIO_000300: 1.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

DP
type: SiteQuality
SIO_000300: 5.568928e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 2.395e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.26e0

GenotypeQuality
all individuals: 320
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2300
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 3.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.106497313141182e-5
allele num: 16376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.249531425715357e-4
allele num: 64024
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 2.33e1

MQRankSum
type: SiteQuality
SIO_000300: -2.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.656e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.6e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -6.145e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.37e-1

DP
type: SiteQuality
SIO_000300: 5.569433e6

QD
type: SiteQuality
SIO_000300: 2.65e0

GenotypeQuality
all individuals: 452
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 706
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.560987793075458e-5
allele num: 64062
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.570169e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -5.881e0

MQRankSum
type: SiteQuality
SIO_000300: -1.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.33e0

QD
type: SiteQuality
SIO_000300: 1.73e0

MQ
type: SiteQuality
SIO_000300: 2.381e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 88
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variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 1.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.109481915933529e-5
allele num: 16368
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64132
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 7.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.24e-1

FS
type: SiteQuality
SIO_000300: 5.993e0

MQRankSum
type: SiteQuality
SIO_000300: 4.03e0

QD
type: SiteQuality
SIO_000300: 2.0e0

DP
type: SiteQuality
SIO_000300: 5.570487e6

VQSLOD
type: SiteQuality
SIO_000300: -2.361e0

MQ
type: SiteQuality
SIO_000300: 2.476e1

GenotypeQuality
all individuals: 328
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 456
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 39
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.221896383186706e-4
allele num: 16368
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64162
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.516e0

DP
type: SiteQuality
SIO_000300: 5.57105e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.75e-1

MQ
type: SiteQuality
SIO_000300: 2.316e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -7.12e0

FS
type: SiteQuality
SIO_000300: 9.407999999999999e0

QD
type: SiteQuality
SIO_000300: 3.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.63e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 471
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variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64252
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.446183953033268e-4
allele num: 16352
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8690
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.466e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e0

MQ
type: SiteQuality
SIO_000300: 2.315e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e0

FS
type: SiteQuality
SIO_000300: 1.3407e1

VQSLOD
type: SiteQuality
SIO_000300: -8.465999999999999e0

DP
type: SiteQuality
SIO_000300: 5.571996e6

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 52309
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variant carriers: 2

GenotypeQuality
all individuals: 785
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8712
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.350176263219741e-4
allele num: 8510
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16356
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64274
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.019e0

MQ
type: SiteQuality
SIO_000300: 2.648e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.82e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.614e0

QD
type: SiteQuality
SIO_000300: 3.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 5.06e-1

DP
type: SiteQuality
SIO_000300: 5.572803e6

VQSLOD
type: SiteQuality
SIO_000300: -5.782e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 2236
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.555451858764971e-5
allele num: 64290
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8732
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16354
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.95e-1

DP
type: SiteQuality
SIO_000300: 5.573063e6

FS
type: SiteQuality
SIO_000300: 8.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.86e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.19e-1

QD
type: SiteQuality
SIO_000300: 1.57e0

MQ
type: SiteQuality
SIO_000300: 2.375e1

MQRankSum
type: SiteQuality
SIO_000300: -1.687e0

VQSLOD
type: SiteQuality
SIO_000300: -5.963e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8732
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.555451858764971e-5
allele num: 64290
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.86e0

DP
type: SiteQuality
SIO_000300: 5.573063e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.95e-1

FS
type: SiteQuality
SIO_000300: 8.35e-1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -5.963e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.19e-1

MQ
type: SiteQuality
SIO_000300: 2.375e1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 2
allele frequency: 2.286236854138089e-4
allele num: 8748
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64318
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

East Asian
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allele count: 2
allele frequency: 2.351281448389372e-4
allele num: 8506
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16356
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 7.18e0

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.9392e1

DP
type: SiteQuality
SIO_000300: 5.5737e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.24e-1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -8.06e-1

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.109066036562616e-5
allele num: 64328
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8656
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

Latino
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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South Asian
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 102

GenotypeQuality
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variant carriers: 9

South Asian
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allele num: 16354
num of homozygotes: 0

Latino
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allele frequency: 4.361479413817167e-4
allele num: 11464
num of homozygotes: 0

African
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allele count: 169
allele frequency: 1.952402957486137e-2
allele num: 8656
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.554533018281308e-5
allele num: 64328
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
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East Asian
type: Population
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allele frequency: 0.0e0
allele num: 8522
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.0638e1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.17e-1

MQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 6.117704637220115e-5
allele num: 16346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64352
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11462
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6604
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8522
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8756
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 5.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -5.832e0

DP
type: SiteQuality
SIO_000300: 5.578339e6

FS
type: SiteQuality
SIO_000300: 5.87e-1

MQ
type: SiteQuality
SIO_000300: 2.463e1

MQRankSum
type: SiteQuality
SIO_000300: -5.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.133e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.8e-2

GenotypeQuality
all individuals: 445
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52296
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 472
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.661859771258081e-5
allele num: 64352
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8756
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -5.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.133e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -5.832e0

QD
type: SiteQuality
SIO_000300: 5.23e0

DP
type: SiteQuality
SIO_000300: 5.578339e6

MQ
type: SiteQuality
SIO_000300: 2.463e1

FS
type: SiteQuality
SIO_000300: 5.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.8e-2

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8742
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.130456105934282e-5
allele num: 16312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64372
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -6.466e0

MQRankSum
type: SiteQuality
SIO_000300: -4.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 8.98e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e0

MQ
type: SiteQuality
SIO_000300: 2.319e1

FS
type: SiteQuality
SIO_000300: 7.467e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 3.7e0

DP
type: SiteQuality
SIO_000300: 5.57674e6

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2015
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16278
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8738
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.656505137677335e-5
allele num: 64426
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -5.746e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.776e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.005e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.02e-1

FS
type: SiteQuality
SIO_000300: 1.24e0

MQ
type: SiteQuality
SIO_000300: 2.381e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

DP
type: SiteQuality
SIO_000300: 5.576002e6

QD
type: SiteQuality
SIO_000300: 5.41e0

MQRankSum
type: SiteQuality
SIO_000300: -1.9e0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551349674216568e-5
allele num: 64460
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8736
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16248
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.81e-1

QD
type: SiteQuality
SIO_000300: 3.72e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -5.056e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.57e0

MQ
type: SiteQuality
SIO_000300: 2.722e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.91e-1

DP
type: SiteQuality
SIO_000300: 5.576133e6

GenotypeQuality
all individuals: 338
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variant carriers: 0

GenotypeQuality
all individuals: 447
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variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16238
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551205286507616e-5
allele num: 64466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8734
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -6.64e0

QD
type: SiteQuality
SIO_000300: 5.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.87e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.326e0

FS
type: SiteQuality
SIO_000300: 6.266e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.79e-1

MQ
type: SiteQuality
SIO_000300: 2.421e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 8.76e0

DP
type: SiteQuality
SIO_000300: 5.57566e6

GenotypeQuality
all individuals: 332
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 11
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GenotypeQuality
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variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16112
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.552216565255184e-5
allele num: 64424
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.148e0

VQSLOD
type: SiteQuality
SIO_000300: -5.676e0

MQ
type: SiteQuality
SIO_000300: 2.443e1

MQRankSum
type: SiteQuality
SIO_000300: -1.276e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

QD
type: SiteQuality
SIO_000300: 5.7e0

DP
type: SiteQuality
SIO_000300: 5.574022e6

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 167
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variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.206554121151936e-5
allele num: 16112
num of homozygotes: 0

East Asian
type: Population
allele count: 9
allele frequency: 1.058823529411765e-3
allele num: 8500
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.788890841975742e-5
allele num: 11378
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.656649695765553e-5
allele num: 64424
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 5.7e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.07e-1

FS
type: SiteQuality
SIO_000300: 5.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.148e0

DP
type: SiteQuality
SIO_000300: 5.574022e6

VQSLOD
type: SiteQuality
SIO_000300: -5.676e0

MQRankSum
type: SiteQuality
SIO_000300: -1.276e0

MQ
type: SiteQuality
SIO_000300: 2.443e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e-1

GenotypeQuality
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variant carriers: 2

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: 8500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64460
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.240540875821858e-4
allele num: 16122
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQRankSum
type: SiteQuality
SIO_000300: 2.75e0

QD
type: SiteQuality
SIO_000300: 2.08e0

VQSLOD
type: SiteQuality
SIO_000300: -7.584e0

FS
type: SiteQuality
SIO_000300: 1.452e1

DP
type: SiteQuality
SIO_000300: 5.575281e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

MQ
type: SiteQuality
SIO_000300: 2.468e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551927493947483e-5
allele num: 64436
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15946
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 5.572909e6

QD
type: SiteQuality
SIO_000300: 4.76e0

FS
type: SiteQuality
SIO_000300: 3.527e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 9.32e0

MQ
type: SiteQuality
SIO_000300: 2.384e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.86e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.06e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15946
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.207709975789931e-5
allele num: 64436
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.527e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.86e-1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.572909e6

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

MQ
type: SiteQuality
SIO_000300: 2.384e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1635
bin: 6.25e1
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
allele num: 11218
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64290
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8048
num of homozygotes: 0

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

East Asian
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allele count: 3
allele frequency: 3.573981415296641e-4
allele num: 8394
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15556
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 2.37e1

DP
type: SiteQuality
SIO_000300: 5.56437e6

VQSLOD
type: SiteQuality
SIO_000300: -6.396e0

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.52e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 326
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GenotypeQuality
all individuals: 9
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8326
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.795977011494253e-4
allele num: 11136
num of homozygotes: 0

African
type: Population
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: 892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64320
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.111e0

MQRankSum
type: SiteQuality
SIO_000300: -2.252e0

DP
type: SiteQuality
SIO_000300: 5.554378e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 2.403e1

VQSLOD
type: SiteQuality
SIO_000300: -6.12e0

QD
type: SiteQuality
SIO_000300: 2.5e0

GenotypeQuality
all individuals: 895
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1718
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15404
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7798
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11138
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64472
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.518833535844471e-4
allele num: 6584
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 2.49e1

FS
type: SiteQuality
SIO_000300: 5.928e0

QD
type: SiteQuality
SIO_000300: 2.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.464e0

VQSLOD
type: SiteQuality
SIO_000300: -6.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.51e-1

DP
type: SiteQuality
SIO_000300: 5.556018e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.82e-1

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1789
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52332
bin: 9.75e1
variant carriers: 86

GenotypeQuality
all individuals: 331
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64622
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8334
num of homozygotes: 0

African
type: Population
allele count: 115
allele frequency: 1.466836734693878e-2
allele num: 7840
num of homozygotes: 34

Latino
type: Population
allele count: 9
allele frequency: 8.084800574919152e-4
allele num: 11132
num of homozygotes: 3

South Asian
type: Population
allele count: 1
allele frequency: 6.490134994807892e-5
allele num: 15408
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -6.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.93e0

FS
type: SiteQuality
SIO_000300: 5.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.239e0

MQ
type: SiteQuality
SIO_000300: 2.637e1

QD
type: SiteQuality
SIO_000300: 1.153e1

DP
type: SiteQuality
SIO_000300: 5.571509e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.753e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.06e-1

GenotypeQuality
all individuals: 321
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52322
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 3.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11028
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8278
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15374
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7728
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.22e0

MQ
type: SiteQuality
SIO_000300: 2.512e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

QD
type: SiteQuality
SIO_000300: 7.36e0

DP
type: SiteQuality
SIO_000300: 5.579199e6

MQRankSum
type: SiteQuality
SIO_000300: 5.38e-1

FS
type: SiteQuality
SIO_000300: 5.6825e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.729e-1

GenotypeQuality
all individuals: 442
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 5

GenotypeQuality
all individuals: 52322
bin: 9.75e1
variant carriers: 21

GenotypeQuality
all individuals: 130
bin: 3.25e1
variant carriers: 25

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 2.941267531502523e-4
allele num: 64598
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 5.203590477429426e-4
allele num: 15374
num of homozygotes: 1

East Asian
type: Population
allele count: 6
allele frequency: 7.24812756704518e-4
allele num: 8278
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

African
type: Population
allele count: 36
allele frequency: 4.658385093167702e-3
allele num: 7728
num of homozygotes: 6

Latino
type: Population
allele count: 11
allele frequency: 9.974610083424013e-4
allele num: 11028
num of homozygotes: 1

Other
type: Population
allele count: 1
allele frequency: 1.121076233183856e-3
allele num: 892
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.36e0

VQSLOD
type: SiteQuality
SIO_000300: 5.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.729e-1

DP
type: SiteQuality
SIO_000300: 5.579199e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.54e-1

MQ
type: SiteQuality
SIO_000300: 2.512e1

FS
type: SiteQuality
SIO_000300: 5.6825e1

MQRankSum
type: SiteQuality
SIO_000300: 5.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

GenotypeQuality
all individuals: 1759
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 74
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64598
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8278
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11028
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.293995859213251e-4
allele num: 7728
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15374
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.54e-1

QD
type: SiteQuality
SIO_000300: 7.36e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.729e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.22e0

MQ
type: SiteQuality
SIO_000300: 2.512e1

FS
type: SiteQuality
SIO_000300: 5.6825e1

MQRankSum
type: SiteQuality
SIO_000300: 5.38e-1

DP
type: SiteQuality
SIO_000300: 5.579199e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeQuality
all individuals: 2137
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65268
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8934
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16188
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

MQ
type: SiteQuality
SIO_000300: 2.764e1

DP
type: SiteQuality
SIO_000300: 5.611852e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

FS
type: SiteQuality
SIO_000300: 3.912e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.968e0

QD
type: SiteQuality
SIO_000300: 6.06e0

GenotypeQuality
all individuals: 938
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52569
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 590
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11390
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8934
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.064288778574493e-5
allele num: 65268
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16188
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

QD
type: SiteQuality
SIO_000300: 6.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 2.764e1

MQRankSum
type: SiteQuality
SIO_000300: -1.968e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.46e-1

FS
type: SiteQuality
SIO_000300: 3.912e0

DP
type: SiteQuality
SIO_000300: 5.611852e6

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

GenotypeQuality
all individuals: 390
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52592
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 37
bin: 3.75e1
variant carriers: 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: 9106
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.062224399804018e-5
allele num: 65312
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -6.403e0

MQRankSum
type: SiteQuality
SIO_000300: -4.24e-1

QD
type: SiteQuality
SIO_000300: 6.6e0

FS
type: SiteQuality
SIO_000300: 2.147e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.01e0

MQ
type: SiteQuality
SIO_000300: 2.769e1

DP
type: SiteQuality
SIO_000300: 5.622684e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-1

GenotypeQuality
all individuals: 1161
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 7.5e0
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.216989168796398e-4
allele num: 16434
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9152
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65330
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 5.624816e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.73e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 3.97e0

MQ
type: SiteQuality
SIO_000300: 2.726e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.32e0

VQSLOD
type: SiteQuality
SIO_000300: -5.203e0

GenotypeQuality
all individuals: 74
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.530596626565035e-5
allele num: 65334
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9160
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.683e0

MQ
type: SiteQuality
SIO_000300: 2.309e1

VQSLOD
type: SiteQuality
SIO_000300: -6.592e0

DP
type: SiteQuality
SIO_000300: 5.627445e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.03e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -7.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.56e-1

QD
type: SiteQuality
SIO_000300: 2.54e0

GenotypeQuality
all individuals: 802
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 52600
bin: 9.75e1
variant carriers: 4

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9160
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.122386506260141e-5
allele num: 65334
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.54e0

VQSLOD
type: SiteQuality
SIO_000300: -6.592e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.03e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.54e-1

DP
type: SiteQuality
SIO_000300: 5.627445e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.56e-1

MQ
type: SiteQuality
SIO_000300: 2.309e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.683e0

FS
type: SiteQuality
SIO_000300: 0.0e0

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

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

GenotypeQuality
all individuals: 535
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.070500076464291e-4
allele num: 65390
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9254
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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South Asian
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allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.118e0

QD
type: SiteQuality
SIO_000300: 5.68e0

MQ
type: SiteQuality
SIO_000300: 2.705e1

MQRankSum
type: SiteQuality
SIO_000300: -9.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.273e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -4.255e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.73e-1

DP
type: SiteQuality
SIO_000300: 5.631846e6

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.587015687593652e-5
allele num: 65402
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9268
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 2.647e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.276e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.979e0

VQSLOD
type: SiteQuality
SIO_000300: -8.071999999999999e0

DP
type: SiteQuality
SIO_000300: 5.633056e6

FS
type: SiteQuality
SIO_000300: 1.323e0

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 3.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.402e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9398
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65654
num of homozygotes: 0

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

East Asian
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allele count: 6
allele frequency: 6.96217219772569e-4
allele num: 8618
num of homozygotes: 1

MQ
type: SiteQuality
SIO_000300: 2.17e1

MQRankSum
type: SiteQuality
SIO_000300: -6.68e-1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.888e0

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.63817e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.44e-2

VQSLOD
type: SiteQuality
SIO_000300: -9.664999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.384e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9478
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.518925815663163e-5
allele num: 65836
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.845e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.6418e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 4.665e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.11e0

QD
type: SiteQuality
SIO_000300: 4.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.93e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.640000000000001e0

MQ
type: SiteQuality
SIO_000300: 2.73e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9504
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517496737382015e-5
allele num: 65898
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.91e0

VQSLOD
type: SiteQuality
SIO_000300: -1.088e1

FS
type: SiteQuality
SIO_000300: 2.902e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.517e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.11e0

MQ
type: SiteQuality
SIO_000300: 2.521e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.73e0

DP
type: SiteQuality
SIO_000300: 5.64359e6

QD
type: SiteQuality
SIO_000300: 3.43e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65898
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9504
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 2.902e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.11e0

MQRankSum
type: SiteQuality
SIO_000300: -2.517e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.91e0

MQ
type: SiteQuality
SIO_000300: 2.521e1

DP
type: SiteQuality
SIO_000300: 5.64359e6

VQSLOD
type: SiteQuality
SIO_000300: -1.088e1

QD
type: SiteQuality
SIO_000300: 3.43e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9520
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65926
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.276e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.19e1

MQRankSum
type: SiteQuality
SIO_000300: -2.394e0

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -6.309e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 2.608e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.08e-1

QD
type: SiteQuality
SIO_000300: 1.97e0

DP
type: SiteQuality
SIO_000300: 5.643994e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9564
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
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: 0
allele frequency: 0.0e0
allele num: 65980
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South Asian
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allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 2.714e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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ClippingRankSum
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.737e0

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.04e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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European (Finnish)
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allele count: 3
allele frequency: 4.548211036992117e-4
allele num: 6596
num of homozygotes: 0

European (Non-Finnish)
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allele count: 7
allele frequency: 1.060927553804183e-4
allele num: 65980
num of homozygotes: 0

East Asian
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Other
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allele frequency: 0.0e0
allele num: 900
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ReadPosRankSum
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QD
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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DP
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 2.714e1

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

South Asian
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.51308821304282e-5
allele num: 66090
num of homozygotes: 0

Latino
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African
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Other
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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QD
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ReadPosRankSum
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VQSLOD
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MQ
type: SiteQuality
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MQRankSum
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 6.05913717886573e-5
allele num: 16504
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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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.512584704743466e-5
allele num: 66112
num of homozygotes: 0

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

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

Other
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allele num: 900
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European (Non-Finnish)
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allele frequency: 1.512218727316719e-5
allele num: 66128
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Latino
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East Asian
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African
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South Asian
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

East Asian
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allele num: 8628
num of homozygotes: 0

African
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South Asian
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Other
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Latino
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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allele frequency: 3.0218783996132e-5
allele num: 66184
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

VQSLOD
type: SiteQuality
SIO_000300: -5.358e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.63e-1

FS
type: SiteQuality
SIO_000300: 6.72e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.124e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 5.66144e6

MQ
type: SiteQuality
SIO_000300: 2.752e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.76e0

QD
type: SiteQuality
SIO_000300: 2.21e0

GenotypeQuality
all individuals: 391
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 827
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 15
allele frequency: 1.548307184145334e-3
allele num: 9688
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66186
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 2.445e1

MQRankSum
type: SiteQuality
SIO_000300: -2.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

QD
type: SiteQuality
SIO_000300: 1.12e0

FS
type: SiteQuality
SIO_000300: 4.633e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: -6.411e0

DP
type: SiteQuality
SIO_000300: 5.66948e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.964e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 52624
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66192
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9704
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.107e0

FS
type: SiteQuality
SIO_000300: 3.996e0

MQRankSum
type: SiteQuality
SIO_000300: -3.264e0

QD
type: SiteQuality
SIO_000300: 1.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.89e0

VQSLOD
type: SiteQuality
SIO_000300: -7.421e0

DP
type: SiteQuality
SIO_000300: 5.66656e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.18e0

MQ
type: SiteQuality
SIO_000300: 2.59e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510847887834653e-5
allele num: 66188
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9706
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 2.594e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

QD
type: SiteQuality
SIO_000300: 2.72e0

DP
type: SiteQuality
SIO_000300: 5.671409e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.416e0

FS
type: SiteQuality
SIO_000300: 6.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e0

MQRankSum
type: SiteQuality
SIO_000300: -1.316e0

VQSLOD
type: SiteQuality
SIO_000300: -5.376e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9706
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.208678310267722e-4
allele num: 66188
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e0

QD
type: SiteQuality
SIO_000300: 2.72e0

VQSLOD
type: SiteQuality
SIO_000300: -5.376e0

DP
type: SiteQuality
SIO_000300: 5.671409e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.416e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.92e-1

MQ
type: SiteQuality
SIO_000300: 2.594e1

MQRankSum
type: SiteQuality
SIO_000300: -1.316e0

FS
type: SiteQuality
SIO_000300: 6.35e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 21

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9712
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 3.021695775669306e-4
allele num: 66188
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 2.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.15e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.515e0

MQ
type: SiteQuality
SIO_000300: 2.679e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.507e0

FS
type: SiteQuality
SIO_000300: 6.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQRankSum
type: SiteQuality
SIO_000300: -1.666e0

DP
type: SiteQuality
SIO_000300: 5.681042e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2778
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5109391998066e-5
allele num: 66184
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9714
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.02e0

FS
type: SiteQuality
SIO_000300: 2.886e0

DP
type: SiteQuality
SIO_000300: 5.678042e6

VQSLOD
type: SiteQuality
SIO_000300: -3.227e0

QD
type: SiteQuality
SIO_000300: 3.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.54e-1

MQ
type: SiteQuality
SIO_000300: 3.889e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.76e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.99e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9716
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.021604471974619e-5
allele num: 66190
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.728907330567082e-4
allele num: 11568
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.03e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.681004e6

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 2.29e0

FS
type: SiteQuality
SIO_000300: 1.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e0

MQ
type: SiteQuality
SIO_000300: 2.571e1

VQSLOD
type: SiteQuality
SIO_000300: -5.849e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66190
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9716
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158748551564311e-4
allele num: 8630
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 2.571e1

ClippingRankSum
type: SiteQuality
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FS
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.681004e6

QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.728907330567082e-4
allele num: 11568
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9716
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.021787084881999e-5
allele num: 66186
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.51e-1

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

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.95e-1

MQ
type: SiteQuality
SIO_000300: 2.683e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 5.68207e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e0

QD
type: SiteQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 537
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 8.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9720
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.510847887834653e-5
allele num: 66188
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 4.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.11e-1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 1.551e0

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.681856e6

MQ
type: SiteQuality
SIO_000300: 3.179e1

ClippingRankSum
type: SiteQuality
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