7-92140372-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92140372
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92140372
    reference: chr 7
allele count: 1
allele frequency: 9.215910347624138e-6
allele num: 108508
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1484-11C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.245-11C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-183-11C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1484-11C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.385-11C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.518-11C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1523-11C>T
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3455
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10834
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2462
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28284
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

7-92140397-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92140397
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92140397
    reference: chr 7
allele count: 23221
allele frequency: 2.270602730081746e-1
allele num: 102268
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1484-36G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-183-36G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.385-36G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.518-36G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1523-36G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.245-36G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1484-36G>A
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 467
genotype depth: GenotypeDepth
  all individuals: 10156
  bin: 2.25e1
  variant carriers: 3704
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 9.75e1
  variant carriers: 419
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 2.5e0
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 5829
  bin: 2.75e1
  variant carriers: 2468
genotype depth: GenotypeDepth
  all individuals: 9955
  bin: 1.75e1
  variant carriers: 4761
genotype depth: GenotypeDepth
  all individuals: 6741
  bin: 7.5e0
  variant carriers: 1315
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 3.25e1
  variant carriers: 1580
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 4.75e1
  variant carriers: 572
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.25e1
  variant carriers: 262
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 178
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 3.75e1
  variant carriers: 923
genotype depth: GenotypeDepth
  all individuals: 15777
  bin: 1.25e1
  variant carriers: 3943
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 4.25e1
  variant carriers: 689
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.75e1
  variant carriers: 354
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 6.75e1
  variant carriers: 259
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 1.25e1
  variant carriers: 75
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 7.25e1
  variant carriers: 163
genotype quality: GenotypeQuality
  all individuals: 4017
  bin: 3.25e1
  variant carriers: 240
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 4.75e1
  variant carriers: 285
genotype quality: GenotypeQuality
  all individuals: 8119
  bin: 6.25e1
  variant carriers: 254
genotype quality: GenotypeQuality
  all individuals: 10950
  bin: 2.25e1
  variant carriers: 154
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 1.75e1
  variant carriers: 98
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 5.25e1
  variant carriers: 276
genotype quality: GenotypeQuality
  all individuals: 2378
  bin: 3.75e1
  variant carriers: 247
num of homozygotes: 2703
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP

7-92140403-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92140403
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92140401
    reference: chr 7
allele count: 2
allele frequency: 2.07960737012852e-5
allele num: 96172
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.518-44_518-43delCT
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1523-44_1523-43delCT
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.245-44_245-43delCT
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1484-44_1484-43delCT
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.385-44_385-43delCT
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-183-44_-183-43delCT
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1484-44_1484-43delCT
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17914
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11417
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9557
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4718
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1928
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3607
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1527
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6942
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: CAG
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

7-92140407-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92140407
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92140407
    reference: chr 7
allele count: 3
allele frequency: 3.21384954898978e-5
allele num: 93346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-183-46C>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.385-46C>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.245-46C>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.518-46C>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1484-46C>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1523-46C>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1484-46C>G
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11182
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10824
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7142
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16878
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2677
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3609
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4690
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2046
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1805
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13770
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

7-92140844-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92140844
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92140844
    reference: chr 7
allele count: 1
allele frequency: 1.109040901428445e-5
allele num: 90168
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.384+50A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1483+50A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1483+50A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-184+50A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.244+50A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1522+50A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.517+50A>G
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10832
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17448
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12826
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4572
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9206
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4561
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2746
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7600
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4721
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

7-92140846-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92140846
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92140846
    reference: chr 7
allele count: 4
allele frequency: 4.448101772568557e-5
allele num: 89926
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.244+48A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-184+48A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1483+48A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.517+48A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1522+48A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1483+48A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.384+48A>G
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12762
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10289
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17483
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1728
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2744
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4115
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4533
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7535
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 466
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genotype quality: GenotypeQuality
  all individuals: 9733
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

7-92140852-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92140852
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92140852
    reference: chr 7
allele count: 3
allele frequency: 3.298008003166088e-5
allele num: 90964
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.384+42A>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.244+42A>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1522+42A>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-184+42A>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1483+42A>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1483+42A>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.517+42A>C
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12855
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7505
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5957
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2362
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4531
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11952
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

7-92140862-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92140862
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92140861
    reference: chr 7
allele count: 5
allele frequency: 5.549759140453305e-5
allele num: 90094
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.244+31delT
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1483+31delT
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1522+31delT
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.384+31delT
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-184+31delT
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1483+31delT
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.517+31delT
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 12717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16139
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12486
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3692
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: GA
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

7-92140868-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92140868
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92140868
    reference: chr 7
allele count: 1
allele frequency: 1.027305787840809e-5
allele num: 97342
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-184+26T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.244+26T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.384+26T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1522+26T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1483+26T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1483+26T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.517+26T>C
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8960
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21686
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4064
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11661
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2403
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3505
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-92140872-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92140872
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92140872
    reference: chr 7
allele count: 1
allele frequency: 9.979442348761552e-6
allele num: 100206
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-184+22A>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1522+22A>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.244+22A>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.384+22A>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1483+22A>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1483+22A>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.517+22A>C
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7187
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9986
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3187
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

7-92140887-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92140887
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92140887
    reference: chr 7
allele count: 1
allele frequency: 8.64812508648125e-6
allele num: 115632
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-184+7A>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.244+7A>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.517+7A>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.384+7A>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1522+7A>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1483+7A>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1483+7A>C
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37544
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8371
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
hgvs: c.1483+7A>C
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

7-92140896-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92140896
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92140896
    reference: chr 7
allele count: 1
allele frequency: 8.37885846432282e-6
allele num: 119348
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1520A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.515A>G
  hgvsp: ENSP00000410438.1:p.Asp172Gly
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1481A>G
  hgvsp: ENSP00000394413.1:p.Asp494Gly
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.382A>G
  hgvsp: ENSP00000389594.1:p.Asp128Gly
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1481A>G
  hgvsp: ENSP00000248633.4:p.Asp494Gly
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-186A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.242A>G
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3834
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp494Gly
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

7-92140904-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92140904
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92140904
    reference: chr 7
allele count: 1
allele frequency: 8.301786544464368e-6
allele num: 120456
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.374A>G
  hgvsp: ENST00000422866.1:c.374A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1512A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-194A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1473A>G
  hgvsp: ENST00000248633.4:c.1473A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.507A>G
  hgvsp: ENST00000438045.1:c.507A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.234A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1473A>G
  hgvsp: ENST00000428214.1:c.1473A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1628
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5095
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu491Glu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
reference allele: T
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

7-92140910-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92140910
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92140910
    reference: chr 7
allele count: 1
allele frequency: 8.276775368316504e-6
allele num: 120820
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1506G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1467G>A
  hgvsp: ENST00000248633.4:c.1467G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.368G>A
  hgvsp: ENST00000422866.1:c.368G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1467G>A
  hgvsp: ENST00000428214.1:c.1467G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.228G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.501G>A
  hgvsp: ENST00000438045.1:c.501G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-200G>A
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1435
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys489Lys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

7-92140926-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92140926
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92140926
    reference: chr 7
allele count: 1
allele frequency: 8.250961236984109e-6
allele num: 121198
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.485A>G
  hgvsp: ENSP00000410438.1:p.Glu162Gly
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.352A>G
  hgvsp: ENSP00000389594.1:p.Glu118Gly
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1451A>G
  hgvsp: ENSP00000248633.4:p.Glu484Gly
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1451A>G
  hgvsp: ENSP00000394413.1:p.Glu484Gly
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.212A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-216A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1490A>G
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9832
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45063
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5155
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu484Gly
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

7-92140936-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92140936
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92140936
    reference: chr 7
allele count: 9
allele frequency: 7.422557978425098e-5
allele num: 121252
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.475G>A
  hgvsp: ENSP00000410438.1:p.Val159Ile
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-226G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.342G>A
  hgvsp: ENSP00000389594.1:p.Val115Ile
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1441G>A
  hgvsp: ENSP00000394413.1:p.Val481Ile
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1441G>A
  hgvsp: ENSP00000248633.4:p.Val481Ile
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1480G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.202G>A
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9880
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4754
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val481Ile
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/7-92140943-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92140943
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92140943
    reference: chr 7
allele count: 14
allele frequency: 1.154296456309879e-4
allele num: 121286
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1434T>G
  hgvsp: ENST00000248633.4:c.1434T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.195T>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1473T>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.335T>G
  hgvsp: ENST00000422866.1:c.335T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1434T>G
  hgvsp: ENST00000428214.1:c.1434T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.468T>G
  hgvsp: ENST00000438045.1:c.468T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-233T>G
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39830
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu478Leu
num of homozygotes: 1
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

7-92140951-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92140951
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92140951
    reference: chr 7
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.460A>G
  hgvsp: ENSP00000410438.1:p.Thr154Ala
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.327A>G
  hgvsp: ENSP00000389594.1:p.Thr110Ala
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1426A>G
  hgvsp: ENSP00000248633.4:p.Thr476Ala
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1465A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-241A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1426A>G
  hgvsp: ENSP00000394413.1:p.Thr476Ala
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.187A>G
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5173
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr476Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/7-92140970-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92140970
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92140970
    reference: chr 7
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1407G>T
  hgvsp: ENSP00000394413.1:p.Trp469Cys
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.168G>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.441G>T
  hgvsp: ENSP00000410438.1:p.Trp147Cys
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.308G>T
  hgvsp: ENSP00000389594.1:p.Trp103Cys
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-260G>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1407G>T
  hgvsp: ENSP00000248633.4:p.Trp469Cys
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1446G>T
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3963
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5188
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Trp469Cys
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

7-92140972-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92140972
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92140972
    reference: chr 7
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.166T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1405T>C
  hgvsp: ENSP00000394413.1:p.Trp469Arg
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1444T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1405T>C
  hgvsp: ENSP00000248633.4:p.Trp469Arg
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.306T>C
  hgvsp: ENSP00000389594.1:p.Trp103Arg
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.439T>C
  hgvsp: ENSP00000410438.1:p.Trp147Arg
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-262T>C
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Trp469Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum

7-92140974-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92140974
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92140974
    reference: chr 7
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1403C>T
  hgvsp: ENSP00000394413.1:p.Ser468Leu
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-264C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.304C>T
  hgvsp: ENSP00000389594.1:p.Ser102Leu
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.437C>T
  hgvsp: ENSP00000410438.1:p.Ser146Leu
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1403C>T
  hgvsp: ENSP00000248633.4:p.Ser468Leu
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1442C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.164C>T
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39688
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45099
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4749
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser468Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

7-92140982-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92140982
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92140982
    reference: chr 7
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-272A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1395A>G
  hgvsp: ENST00000248633.4:c.1395A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.429A>G
  hgvsp: ENST00000438045.1:c.429A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.296A>G
  hgvsp: ENST00000422866.1:c.296A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.156A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1434A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1395A>G
  hgvsp: ENST00000428214.1:c.1395A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val465Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ

7-92140985-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92140985
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92140985
    reference: chr 7
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-275T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1392T>C
  hgvsp: ENST00000428214.1:c.1392T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.426T>C
  hgvsp: ENST00000438045.1:c.426T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1431T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.293T>C
  hgvsp: ENST00000422866.1:c.293T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1392T>C
  hgvsp: ENST00000248633.4:c.1392T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.153T>C
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10030
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1632
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr464Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

7-92140997-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92140997
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92140997
    reference: chr 7
allele count: 74
allele frequency: 6.102589477156523e-4
allele num: 121260
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1419A>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.414A>C
  hgvsp: ENSP00000410438.1:p.Glu138Asp
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.141A>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1380A>C
  hgvsp: ENSP00000248633.4:p.Glu460Asp
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-287A>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1380A>C
  hgvsp: ENSP00000394413.1:p.Glu460Asp
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.281A>C
  hgvsp: ENSP00000389594.1:p.Glu94Asp
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 39516
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10035
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 4.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1438
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu460Asp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

7-92140998-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92140998
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92140998
    reference: chr 7
allele count: 1
allele frequency: 8.247422680412371e-6
allele num: 121250
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.280A>G
  hgvsp: ENSP00000389594.1:p.Glu94Gly
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1379A>G
  hgvsp: ENSP00000394413.1:p.Glu460Gly
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-288A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1379A>G
  hgvsp: ENSP00000248633.4:p.Glu460Gly
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1418A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.413A>G
  hgvsp: ENSP00000410438.1:p.Glu138Gly
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.140A>G
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3979
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44927
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1632
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1218
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu460Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/7-92141003-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92141003
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92141003
    reference: chr 7
allele count: 1
allele frequency: 8.248783304462591e-6
allele num: 121230
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.275T>G
  hgvsp: ENSP00000389594.1:p.Ser92Arg
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-293T>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1374T>G
  hgvsp: ENSP00000248633.4:p.Ser458Arg
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.408T>G
  hgvsp: ENSP00000410438.1:p.Ser136Arg
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1374T>G
  hgvsp: ENSP00000394413.1:p.Ser458Arg
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.135T>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1413T>G
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39443
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3986
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1632
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5173
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser458Arg
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: A
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

7-92141008-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92141008
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92141008
    reference: chr 7
allele count: 2
allele frequency: 1.650328415354656e-5
allele num: 121188
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1369A>G
  hgvsp: ENSP00000248633.4:p.Ile457Val
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.270A>G
  hgvsp: ENSP00000389594.1:p.Ile91Val
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.130A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-298A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.403A>G
  hgvsp: ENSP00000410438.1:p.Ile135Val
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1408A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1369A>G
  hgvsp: ENSP00000394413.1:p.Ile457Val
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile457Val
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/7-92141021-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92141021
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92141021
    reference: chr 7
allele count: 48
allele frequency: 3.968844570124523e-4
allele num: 120942
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.394-4G>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.121-4G>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1360-4G>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1399-4G>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-307-4G>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.261-4G>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1360-4G>T
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4006
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 10086
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38748
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44188
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.25e1
  variant carriers: 0
hgvs: c.1360-4G>T
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP

7-92141024-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92141024
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92141024
    reference: chr 7
allele count: 34
allele frequency: 2.813172265431077e-4
allele num: 120860
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.121-7C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-307-7C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1360-7C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.261-7C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1360-7C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1399-7C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.394-7C>T
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 38447
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10177
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4005
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1433
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43984
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4764
  bin: 9.75e1
  variant carriers: 34
hgvs: c.1360-7C>T
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD

7-92141034-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92141034
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92141034
    reference: chr 7
allele count: 7
allele frequency: 5.806719203649938e-5
allele num: 120550
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.261-17A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.121-17A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1360-17A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.394-17A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-307-17A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1360-17A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1399-17A>G
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36855
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4964
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4740
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1396
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42260
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

7-92141036-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92141036
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92141036
    reference: chr 7
allele count: 2
allele frequency: 1.659888787451241e-5
allele num: 120490
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.394-19C>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1360-19C>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1360-19C>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.261-19C>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.121-19C>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-307-19C>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1399-19C>G
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10116
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42122
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

7-92141043-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92141043
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92141043
    reference: chr 7
allele count: 1
allele frequency: 8.315316813570598e-6
allele num: 120260
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.394-26T>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1399-26T>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-307-26T>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1360-26T>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.121-26T>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.261-26T>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1360-26T>A
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3376
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9771
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2364
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4735
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39186
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

7-92141044-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92141044
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92141044
    reference: chr 7
allele count: 1
allele frequency: 8.314625426124552e-6
allele num: 120270
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-307-27A>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.261-27A>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.121-27A>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.394-27A>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1399-27A>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1360-27A>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1360-27A>C
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3393
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4001
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39304
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1596
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

7-92141056-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92141056
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92141056
    reference: chr 7
allele count: 1
allele frequency: 8.362322718758362e-6
allele num: 119584
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.121-39G>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.394-39G>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1360-39G>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-307-39G>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1360-39G>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.261-39G>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1399-39G>C
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4988
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9658
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3830
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4015
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4735
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3377
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1747
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

7-92141057-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92141057
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92141057
    reference: chr 7
allele count: 1
allele frequency: 8.363301831563101e-6
allele num: 119570
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.121-40A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.394-40A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1360-40A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.261-40A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-307-40A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1360-40A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1399-40A>G
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9651
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4995
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4015
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28213
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3394
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1946
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4270
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/7-92141061-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92141061
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92141061
    reference: chr 7
allele count: 1
allele frequency: 8.392500461587526e-6
allele num: 119154
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.121-44G>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1399-44G>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.394-44G>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1360-44G>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-307-44G>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1360-44G>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.261-44G>T
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4968
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8042
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1548
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24674
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3332
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4063
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4323
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2316
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

7-92141061-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92141061
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92141061
    reference: chr 7
allele count: 1
allele frequency: 8.392500461587526e-6
allele num: 119154
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1360-44G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1399-44G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.121-44G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-307-44G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.394-44G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.261-44G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1360-44G>A
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4968
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3693
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24674
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2034
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3052
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3332
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2316
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ

7-92141061-CTTAACT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92141061
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92141055
    reference: chr 7
allele count: 63
allele frequency: 5.287275290800141e-4
allele num: 119154
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.261-50_261-45delAGTTAA
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1360-50_1360-45delAGTTAA
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.394-50_394-45delAGTTAA
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1399-50_1399-45delAGTTAA
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1360-50_1360-45delAGTTAA
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.121-50_121-45delAGTTAA
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-307-50_-307-45delAGTTAA
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3693
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25952
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 10150
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4968
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8042
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3052
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2034
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1548
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4323
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: CTTAACT
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

7-92141067-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92141067
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92141067
    reference: chr 7
allele count: 3
allele frequency: 2.547857252051025e-5
allele num: 117746
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.121-50A>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.261-50A>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1360-50A>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.394-50A>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-307-50A>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1399-50A>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1360-50A>C
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3646
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10025
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9652
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4914
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4455
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4723
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5817
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3543
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5249
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/7-92143115-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92143115
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92143116
    reference: chr 7
allele count: 2
allele frequency: 1.668390670359371e-5
allele num: 119876
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1359+46dupT
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.260+46dupT
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.393+46dupT
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1359+46dupT
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-308+46dupT
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1398+46dupT
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.120+46dupT
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4096
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15218
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4211
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29606
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10465
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3190
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

7-92143115-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92143115
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92143115
    reference: chr 7
allele count: 1
allele frequency: 8.341953351796856e-6
allele num: 119876
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1398+47G>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.393+47G>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1359+47G>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.260+47G>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-308+47G>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.120+47G>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1359+47G>C
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15218
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4096
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29606
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10465
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

7-92143120-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92143120
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92143120
    reference: chr 7
allele count: 2
allele frequency: 1.668251505596984e-5
allele num: 119886
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-308+42G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1359+42G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1398+42G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.393+42G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.120+42G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.260+42G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1359+42G>A
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4097
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19769
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7725
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2754
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4188
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP

7-92143121-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92143121
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92143121
    reference: chr 7
allele count: 83
allele frequency: 6.921280853902602e-4
allele num: 119920
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1398+41C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.260+41C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.120+41C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1359+41C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-308+41C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1359+41C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.393+41C>T
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15308
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7304
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7713
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19786
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4095
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2742
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4617
  bin: 9.75e1
  variant carriers: 83
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

7-92143132-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92143132
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92143132
    reference: chr 7
allele count: 1
allele frequency: 8.331250520703158e-6
allele num: 120030
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1359+30A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1398+30A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-308+30A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.120+30A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.393+30A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.260+30A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1359+30A>G
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4088
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2742
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4171
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3190
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD

7-92143136-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92143136
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92143136
    reference: chr 7
allele count: 1
allele frequency: 8.329168748958854e-6
allele num: 120060
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1359+26C>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.393+26C>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.260+26C>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.120+26C>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-308+26C>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1398+26C>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1359+26C>G
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7749
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4087
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2740
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10566
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4172
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3185
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

7-92143138-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92143138
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92143138
    reference: chr 7
allele count: 1
allele frequency: 8.325840077263796e-6
allele num: 120108
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1359+24A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.120+24A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1359+24A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.393+24A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-308+24A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.260+24A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1398+24A>G
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4088
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15425
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10578
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

7-92143146-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92143146
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92143146
    reference: chr 7
allele count: 6
allele frequency: 4.990518015770037e-5
allele num: 120228
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1359+16T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-308+16T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1398+16T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.120+16T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.393+16T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1359+16T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.260+16T>C
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15444
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4087
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10605
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31885
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4540
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/7-92143148-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92143148
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92143148
    reference: chr 7
allele count: 2
allele frequency: 1.662952738883161e-5
allele num: 120268
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.120+14T>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1398+14T>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-308+14T>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.260+14T>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.393+14T>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1359+14T>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1359+14T>G
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4088
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4535
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2740
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31950
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

7-92143149-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92143149
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92143149
    reference: chr 7
allele count: 1
allele frequency: 8.314210648840998e-6
allele num: 120276
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1359+13A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.393+13A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1398+13A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.120+13A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.260+13A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1359+13A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-308+13A>G
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4088
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15451
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10617
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3187
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

7-92143178-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92143178
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92143178
    reference: chr 7
allele count: 2
allele frequency: 1.657467720816137e-5
allele num: 120666
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.244A>T
  hgvsp: ENSP00000389594.1:p.Gln82Leu
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1382A>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1343A>T
  hgvsp: ENSP00000394413.1:p.Gln448Leu
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.377A>T
  hgvsp: ENSP00000410438.1:p.Gln126Leu
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-324A>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1343A>T
  hgvsp: ENSP00000248633.4:p.Gln448Leu
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.104A>T
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4092
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32298
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln448Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

7-92143183-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92143183
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92143183
    reference: chr 7
allele count: 1
allele frequency: 8.284866862189524e-6
allele num: 120702
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.372G>A
  hgvsp: ENST00000438045.1:c.372G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1338G>A
  hgvsp: ENST00000248633.4:c.1338G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.239G>A
  hgvsp: ENST00000422866.1:c.239G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.99G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1338G>A
  hgvsp: ENST00000428214.1:c.1338G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1377G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-329G>A
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20178
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4090
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8208
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32277
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys446Lys
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD

7-92143197-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92143197
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92143197
    reference: chr 7
allele count: 36
allele frequency: 2.980132450331126e-4
allele num: 120800
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1324C>T
  hgvsp: ENSP00000248633.4:p.Pro442Ser
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1324C>T
  hgvsp: ENSP00000394413.1:p.Pro442Ser
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1363C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-343C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.225C>T
  hgvsp: ENSP00000389594.1:p.Pro76Ser
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.358C>T
  hgvsp: ENSP00000410438.1:p.Pro120Ser
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.85C>T
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8266
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4087
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4174
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4548
  bin: 9.75e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro442Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

7-92143207-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92143207
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92143207
    reference: chr 7
allele count: 1
allele frequency: 8.277323444690924e-6
allele num: 120812
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-353C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.348C>T
  hgvsp: ENST00000438045.1:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1314C>T
  hgvsp: ENST00000428214.1:c.1314C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.215C>T
  hgvsp: ENST00000422866.1:c.215C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.75C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1314C>T
  hgvsp: ENST00000248633.4:c.1314C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1353C>T
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8270
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4087
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr438Thr
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum

7-92143212-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92143212
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92143212
    reference: chr 7
allele count: 1
allele frequency: 8.278145695364238e-6
allele num: 120800
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1348G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1309G>A
  hgvsp: ENSP00000394413.1:p.Val437Ile
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.70G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.343G>A
  hgvsp: ENSP00000410438.1:p.Val115Ile
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.210G>A
  hgvsp: ENSP00000389594.1:p.Val71Ile
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1309G>A
  hgvsp: ENSP00000248633.4:p.Val437Ile
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-358G>A
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4087
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8254
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4180
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32410
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val437Ile
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

7-92143221-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92143221
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92143221
    reference: chr 7
allele count: 4
allele frequency: 3.311696913498477e-5
allele num: 120784
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1339C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.201C>T
  hgvsp: ENSP00000389594.1:p.Pro68Ser
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.61C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-367C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.334C>T
  hgvsp: ENSP00000410438.1:p.Pro112Ser
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1300C>T
  hgvsp: ENSP00000248633.4:p.Pro434Ser
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1300C>T
  hgvsp: ENSP00000394413.1:p.Pro434Ser
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4088
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32370
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4175
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4517
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 10631
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro434Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

7-92143221-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92143221
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92143221
    reference: chr 7
allele count: 1
allele frequency: 8.279242283746192e-6
allele num: 120784
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.61C>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-367C>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1339C>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.334C>G
  hgvsp: ENSP00000410438.1:p.Pro112Ala
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1300C>G
  hgvsp: ENSP00000394413.1:p.Pro434Ala
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.201C>G
  hgvsp: ENSP00000389594.1:p.Pro68Ala
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1300C>G
  hgvsp: ENSP00000248633.4:p.Pro434Ala
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4088
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10631
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2734
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro434Ala
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

7-92143233-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92143233
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92143233
    reference: chr 7
allele count: 1
allele frequency: 8.28349430923941e-6
allele num: 120722
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.189G>C
  hgvsp: ENSP00000389594.1:p.Val64Leu
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1327G>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1288G>C
  hgvsp: ENSP00000394413.1:p.Val430Leu
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.322G>C
  hgvsp: ENSP00000410438.1:p.Val108Leu
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.49G>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1288G>C
  hgvsp: ENSP00000248633.4:p.Val430Leu
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-379G>C
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4087
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20211
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3188
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2735
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32305
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val430Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

7-92143236-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92143236
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92143236
    reference: chr 7
allele count: 2
allele frequency: 1.656918463042434e-5
allele num: 120706
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.319G>A
  hgvsp: ENSP00000410438.1:p.Val107Ile
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.186G>A
  hgvsp: ENSP00000389594.1:p.Val63Ile
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1285G>A
  hgvsp: ENSP00000394413.1:p.Val429Ile
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-382G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.46G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1285G>A
  hgvsp: ENSP00000248633.4:p.Val429Ile
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1324G>A
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4087
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7731
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20217
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4169
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3187
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val429Ile
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

7-92143237-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92143237
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92143237
    reference: chr 7
allele count: 2
allele frequency: 1.657055743355207e-5
allele num: 120696
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-383C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.45C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1284C>T
  hgvsp: ENST00000248633.4:c.1284C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1284C>T
  hgvsp: ENST00000428214.1:c.1284C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.318C>T
  hgvsp: ENST00000438045.1:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.185C>T
  hgvsp: ENST00000422866.1:c.185C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1323C>T
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20211
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15481
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4087
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2733
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala428Ala
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

7-92143238-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92143238
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92143238
    reference: chr 7
allele count: 1
allele frequency: 8.285416010737898e-6
allele num: 120694
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1283C>T
  hgvsp: ENSP00000248633.4:p.Ala428Val
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.317C>T
  hgvsp: ENSP00000410438.1:p.Ala106Val
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1283C>T
  hgvsp: ENSP00000394413.1:p.Ala428Val
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1322C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.44C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.184C>T
  hgvsp: ENSP00000389594.1:p.Ala62Val
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-384C>T
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4087
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7731
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3183
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala428Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

7-92143244-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92143244
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92143244
    reference: chr 7
allele count: 1
allele frequency: 8.289674381590291e-6
allele num: 120632
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1277T>C
  hgvsp: ENSP00000394413.1:p.Met426Thr
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.178T>C
  hgvsp: ENSP00000389594.1:p.Met60Thr
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1277T>C
  hgvsp: ENSP00000248633.4:p.Met426Thr
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1316T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.311T>C
  hgvsp: ENSP00000410438.1:p.Met104Thr
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.38T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-390T>C
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20197
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7971
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32152
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2729
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Met426Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

7-92143245-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92143245
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92143245
    reference: chr 7
allele count: 1
allele frequency: 8.290086714307032e-6
allele num: 120626
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.310A>G
  hgvsp: ENSP00000410438.1:p.Met104Val
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.177A>G
  hgvsp: ENSP00000389594.1:p.Met60Val
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1315A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1276A>G
  hgvsp: ENSP00000394413.1:p.Met426Val
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1276A>G
  hgvsp: ENSP00000248633.4:p.Met426Val
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.37A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-391A>G
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3180
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Met426Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP

7-92143250-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92143250
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92143250
    reference: chr 7
allele count: 2
allele frequency: 1.658649859014762e-5
allele num: 120580
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.32T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1271T>C
  hgvsp: ENSP00000248633.4:p.Ile424Thr
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1271T>C
  hgvsp: ENSP00000394413.1:p.Ile424Thr
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1310T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.172T>C
  hgvsp: ENSP00000389594.1:p.Ile58Thr
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.305T>C
  hgvsp: ENSP00000410438.1:p.Ile102Thr
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-396T>C
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7731
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10609
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4507
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4160
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile424Thr
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

7-92143253-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92143253
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92143253
    reference: chr 7
allele count: 26
allele frequency: 2.157103507782166e-4
allele num: 120532
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.29A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1268A>G
  hgvsp: ENSP00000394413.1:p.Asn423Ser
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.302A>G
  hgvsp: ENSP00000410438.1:p.Asn101Ser
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1268A>G
  hgvsp: ENSP00000248633.4:p.Asn423Ser
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-399A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1307A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.169A>G
  hgvsp: ENSP00000389594.1:p.Asn57Ser
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4085
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7730
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3179
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10603
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2730
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4511
  bin: 9.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4160
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asn423Ser
num of homozygotes: 1
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-92143265-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92143265
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92143265
    reference: chr 7
allele count: 2
allele frequency: 1.663727414900343e-5
allele num: 120212
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1256G>A
  hgvsp: ENSP00000248633.4:p.Arg419Lys
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.290G>A
  hgvsp: ENSP00000410438.1:p.Arg97Lys
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.17G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1295G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1256G>A
  hgvsp: ENSP00000394413.1:p.Arg419Lys
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.157G>A
  hgvsp: ENSP00000389594.1:p.Arg53Lys
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-411G>A
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4087
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3164
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4146
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg419Lys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

7-92143272-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92143272
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92143272
    reference: chr 7
allele count: 7
allele frequency: 5.837906359981986e-5
allele num: 119906
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1249G>A
  hgvsp: ENSP00000394413.1:p.Asp417Asn
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1249G>A
  hgvsp: ENSP00000248633.4:p.Asp417Asn
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.150G>A
  hgvsp: ENSP00000389594.1:p.Asp51Asn
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1288G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-418G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.283G>A
  hgvsp: ENSP00000410438.1:p.Asp95Asn
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.10G>A
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15411
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7723
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4129
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10519
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp417Asn
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: MQ

7-92143277-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92143277
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92143277
    reference: chr 7
allele count: 1
allele frequency: 8.36946150884652e-6
allele num: 119482
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.5C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1283C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1244C>T
  hgvsp: ENSP00000248633.4:p.Pro415Leu
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.145C>T
  hgvsp: ENSP00000389594.1:p.Pro49Leu
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.278C>T
  hgvsp: ENSP00000410438.1:p.Pro93Leu
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1244C>T
  hgvsp: ENSP00000394413.1:p.Pro415Leu
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-423C>T
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7711
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4078
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10469
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4483
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4125
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31151
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro415Leu
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

7-92143281-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92143281
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92143281
    reference: chr 7
allele count: 1
allele frequency: 8.409580193756727e-6
allele num: 118912
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1240A>G
  hgvsp: ENSP00000248633.4:p.Ile414Val
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.274A>G
  hgvsp: ENSP00000410438.1:p.Ile92Val
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1279A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-427A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000476923
  gene symbol: PEX1
  hgvsc: ENST00000476923.1:n.1A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.141A>G
  hgvsp: ENSP00000389594.1:p.Ile48Val
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1240A>G
  hgvsp: ENSP00000394413.1:p.Ile414Val
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7644
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile414Val
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD

7-92143296-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92143296
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92143296
    reference: chr 7
allele count: 14
allele frequency: 1.243803194797349e-4
allele num: 112558
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-427-15A>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.274-15A>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1240-15A>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.141-15A>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1240-15A>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1279-15A>T
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2906
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6331
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13185
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4777
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18220
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5774
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2915
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3781
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1787
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2369
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 7.5e0
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP

7-92143306-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92143306
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92143306
    reference: chr 7
allele count: 2
allele frequency: 1.929794090970494e-5
allele num: 103638
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1240-25A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1279-25A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.274-25A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-427-25A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1240-25A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.141-25A>G
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4883
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9045
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16575
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21627
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3598
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

7-92143318-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92143318
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92143318
    reference: chr 7
allele count: 4
allele frequency: 4.119634176485128e-5
allele num: 97096
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1240-37G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.274-37G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1240-37G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1279-37G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.141-37G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-427-37G>A
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7037
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4817
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4164
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10016
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12708
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14234
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3776
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5203
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2437
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2424
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

7-92143322-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92143322
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92143322
    reference: chr 7
allele count: 5
allele frequency: 5.290557413129047e-5
allele num: 94508
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.1240-41C>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000389594
  ensembl transcript: ENST00000422866
  gene symbol: PEX1
  hgvsc: ENST00000422866.1:c.141-41C>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000438637
  ensembl transcript: ENST00000541751
  gene symbol: PEX1
  hgvsc: ENST00000541751.1:c.-427-41C>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.1240-41C>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.274-41C>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.1279-41C>G
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5005
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9561
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9074
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1815
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 992
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11431
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1272
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 947
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3011
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2606
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3686
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8160
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6206
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11038
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8996
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.368615462998345e-5
allele num: 15702
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57574
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.61e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.161e0

FS
type: SiteQuality
SIO_000300: 1.647e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: -1.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

VQSLOD
type: SiteQuality
SIO_000300: 5.7e-1

DP
type: SiteQuality
SIO_000300: 1.356123e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.43e-1

GenotypeQuality
all individuals: 3003
bin: 2.75e1
variant carriers: 123

GenotypeQuality
all individuals: 764
bin: 4.25e1
variant carriers: 156

GenotypeQuality
all individuals: 950
bin: 2.5e0
variant carriers: 28

GenotypeQuality
all individuals: 692
bin: 9.25e1
variant carriers: 308

GenotypeQuality
all individuals: 975
bin: 7.75e1
variant carriers: 249

GenotypeQuality
all individuals: 384
bin: 5.75e1
variant carriers: 193

GenotypeQuality
all individuals: 20397
bin: 9.75e1
variant carriers: 18395

GenotypeQuality
all individuals: 825
bin: 8.25e1
variant carriers: 237

GenotypeQuality
all individuals: 519
bin: 8.75e1
variant carriers: 229

GenotypeQuality
all individuals: 1651
bin: 7.5e0
variant carriers: 61

European (Non-Finnish)
type: Population
allele count: 10916
allele frequency: 2.046264012297079e-1
allele num: 53346
num of homozygotes: 1011

African
type: Population
allele count: 3441
allele frequency: 3.990027829313544e-1
allele num: 8624
num of homozygotes: 669

East Asian
type: Population
allele count: 2423
allele frequency: 3.154126529549596e-1
allele num: 7682
num of homozygotes: 364

Latino
type: Population
allele count: 2773
allele frequency: 2.62544972543079e-1
allele num: 10562
num of homozygotes: 336

South Asian
type: Population
allele count: 2414
allele frequency: 1.575718015665796e-1
allele num: 15320
num of homozygotes: 211

Other
type: Population
allele count: 180
allele frequency: 2.233250620347395e-1
allele num: 806
num of homozygotes: 16

European (Finnish)
type: Population
allele count: 1074
allele frequency: 1.811740890688259e-1
allele num: 5928
num of homozygotes: 96

ClippingRankSum
type: SiteQuality
SIO_000300: -1.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.567e0

QD
type: SiteQuality
SIO_000300: 1.75e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.49e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.16e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.349345e6

GenotypeQuality
all individuals: 736
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15595
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3081
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1558
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4781
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1125
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8353
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49364
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.624671916010499e-3
allele num: 762
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10128
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7966
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14916
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7288
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5748
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.581e1

QD
type: SiteQuality
SIO_000300: 1.372e1

MQRankSum
type: SiteQuality
SIO_000300: -4.71e-1

DP
type: SiteQuality
SIO_000300: 1.17937e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

GenotypeQuality
all individuals: 2094
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6998
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5112
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3289
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6085
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2549
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 940
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 2.01328769881216e-4
allele num: 9934
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.104997263503557e-5
allele num: 47506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7740
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7076
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14728
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5614
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.686e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.42e-1

DP
type: SiteQuality
SIO_000300: 1.163995e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.04e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.284e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

GenotypeQuality
all individuals: 689
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3508
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1457
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6241
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 479
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1171
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2176
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2767
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4159
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.139220468061438e-5
allele num: 46746
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5692
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7444
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9192
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14140
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6226
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

QD
type: SiteQuality
SIO_000300: 1.397e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

DP
type: SiteQuality
SIO_000300: 1.168842e6

GenotypeQuality
all individuals: 2991
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 893
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6203
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4719
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 2136
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2378
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5085
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 478
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1147
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9166
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 8.588482844505518e-5
allele num: 46574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14114
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6222
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.76e-1

QD
type: SiteQuality
SIO_000300: 1.475e1

DP
type: SiteQuality
SIO_000300: 1.173212e6

GenotypeQuality
all individuals: 252
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2325
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1006
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4720
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 9132
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2797
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1589
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1168
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47200
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14208
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5734
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7534
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9266
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 4.770992366412214e-4
allele num: 6288
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.174e0

QD
type: SiteQuality
SIO_000300: 8.84e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.199608e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.107e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.358e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

MQ
type: SiteQuality
SIO_000300: 5.863e1

GenotypeQuality
all individuals: 477
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4700
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4028
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1234
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1217
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1011
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15620
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2601
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 937
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5826
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9126
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.424808326551591e-5
allele num: 46694
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.329433661260303e-4
allele num: 7522
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5700
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.602050624799744e-4
allele num: 6242
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14088
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.9e-1

QD
type: SiteQuality
SIO_000300: 3.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

DP
type: SiteQuality
SIO_000300: 1.304164e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-2

FS
type: SiteQuality
SIO_000300: 2.186e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 181
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2966
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1126
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23158
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4741
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 518
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1408
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5962
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51048
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14718
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.01440454453236e-4
allele num: 9858
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8142
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6838
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.207e-1

QD
type: SiteQuality
SIO_000300: 1.868e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.99e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.379719e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.75e-1

GenotypeQuality
all individuals: 609
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1867
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10386
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2448
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1210
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3719
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1144
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25960
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4739
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6038
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.89186121306141e-5
allele num: 52858
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8422
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7094
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10084
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14926
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.59e-1

DP
type: SiteQuality
SIO_000300: 1.425745e6

QD
type: SiteQuality
SIO_000300: 9.960000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.21e0

VQSLOD
type: SiteQuality
SIO_000300: -1.01e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.378e0

MQ
type: SiteQuality
SIO_000300: 5.843e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

GenotypeQuality
all individuals: 197
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1196
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2949
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4776
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1600
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 527
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GenotypeQuality
all individuals: 41036
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variant carriers: 0

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

GenotypeQuality
all individuals: 4747
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63142
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8248
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11112
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.2672348959639e-5
allele num: 15956
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.05e-1

DP
type: SiteQuality
SIO_000300: 1.613821e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.94e0

VQSLOD
type: SiteQuality
SIO_000300: -3.23e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

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

GenotypeQuality
all individuals: 98
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variant carriers: 0

GenotypeQuality
all individuals: 43704
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variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 1429
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variant carriers: 0

GenotypeQuality
all individuals: 540
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variant carriers: 0

GenotypeQuality
all individuals: 1616
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variant carriers: 0

GenotypeQuality
all individuals: 1205
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.525180733916969e-5
allele num: 65566
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 1.162520344106022e-4
allele num: 8602
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 900
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Latino
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allele frequency: 0.0e0
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QD
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DP
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MQRankSum
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FS
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MQ
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 1.160092807424594e-4
allele num: 8620
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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Other
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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MQ
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QD
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FS
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BaseQRankSum
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InbreedingCoeff
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DP
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
allele num: 16492
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66612
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Latino
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allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

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

FS
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 1.72e-1

MQRankSum
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DP
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ClippingRankSum
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QD
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 5.924e1

VQSLOD
type: SiteQuality
SIO_000300: -9.184e-1

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 8
allele frequency: 1.200516221975449e-4
allele num: 66638
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
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East Asian
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ReadPosRankSum
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SIO_000300: 4.28e-1

MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -2.06e-1

VQSLOD
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QD
type: SiteQuality
SIO_000300: 1.17e1

FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.309e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-2

DP
type: SiteQuality
SIO_000300: 1.675852e6

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

African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66660
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South Asian
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allele frequency: 8.481764206955047e-4
allele num: 16506
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Latino
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Other
type: Population
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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DP
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QD
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MQ
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.500105007350515e-5
allele num: 66662
num of homozygotes: 0

East Asian
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allele num: 8648
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Latino
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Other
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num of homozygotes: 0

QD
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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FS
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MQ
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ReadPosRankSum
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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Latino
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European (Finnish)
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European (Non-Finnish)
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East Asian
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African
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DP
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ClippingRankSum
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FS
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ReadPosRankSum
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VQSLOD
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MQ
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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East Asian
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African
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European (Finnish)
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European (Non-Finnish)
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Other
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VQSLOD
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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QD
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FS
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ClippingRankSum
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DP
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MQ
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
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num of homozygotes: 0

East Asian
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Other
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European (Non-Finnish)
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allele num: 66660
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European (Finnish)
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African
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South Asian
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BaseQRankSum
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VQSLOD
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QD
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.28e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.677212e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.62e-1

GenotypeQuality
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variant carriers: 0

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500015000150001e-5
allele num: 66666
num of homozygotes: 0

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

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 904
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InbreedingCoeff
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SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.96e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

ReadPosRankSum
type: SiteQuality
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DP
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MQRankSum
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SIO_000300: -5.46e-1

QD
type: SiteQuality
SIO_000300: 1.311e1

VQSLOD
type: SiteQuality
SIO_000300: 8.26e-1

FS
type: SiteQuality
SIO_000300: 8.28e-1

MQ
type: SiteQuality
SIO_000300: 5.937e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66662
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 10400
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South Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 904
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FS
type: SiteQuality
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QD
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VQSLOD
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DP
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InbreedingCoeff
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SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

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

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

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

Other
type: Population
allele count: 2
allele frequency: 2.212389380530973e-3
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.5004651441947e-5
allele num: 66646
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
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South Asian
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allele count: 71
allele frequency: 4.303551945690386e-3
allele num: 16498
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-3

FS
type: SiteQuality
SIO_000300: 1.22e0

MQRankSum
type: SiteQuality
SIO_000300: -1.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.263e1

MQ
type: SiteQuality
SIO_000300: 5.975e1

DP
type: SiteQuality
SIO_000300: 1.679225e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-1

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66642
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.67626e6

BaseQRankSum
type: SiteQuality
SIO_000300: 9.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.055e0

FS
type: SiteQuality
SIO_000300: 1.305e0

MQ
type: SiteQuality
SIO_000300: 5.929e1

QD
type: SiteQuality
SIO_000300: 1.029e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.63e0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6600
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10398
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500870504892838e-5
allele num: 66628
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.67593e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.65e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.8e-1

BaseQRankSum
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QD
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.972e1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002462018855461e-5
allele num: 66612
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BaseQRankSum
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ClippingRankSum
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SIO_000300: 4.32e-1

MQRankSum
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DP
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 1
allele frequency: 1.516990291262136e-4
allele num: 6592
num of homozygotes: 0

Latino
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South Asian
type: Population
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African
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allele frequency: 2.894635275955229e-4
allele num: 10364
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Other
type: Population
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European (Non-Finnish)
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allele count: 44
allele frequency: 6.620125180548869e-4
allele num: 66464
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East Asian
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e-1

InbreedingCoeff
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FS
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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MQ
type: SiteQuality
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VQSLOD
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QD
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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allele num: 904
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.59920291110726e-4
allele num: 11542
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 30
allele frequency: 4.517528008673654e-4
allele num: 66408
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South Asian
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East Asian
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African
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allele num: 10356
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BaseQRankSum
type: SiteQuality
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DP
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VQSLOD
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
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allele frequency: 0.0e0
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East Asian
type: Population
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Other
type: Population
allele count: 0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
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European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.057401812688822e-4
allele num: 66200
num of homozygotes: 0

MQRankSum
type: SiteQuality
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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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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.52e-1

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

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

European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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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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Other
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South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 1.935359009096187e-4
allele num: 10334
num of homozygotes: 0

ReadPosRankSum
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FS
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QD
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MQ
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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MQRankSum
type: SiteQuality
SIO_000300: -7.35e-1

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

South Asian
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allele frequency: 6.088650754992694e-5
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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Other
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num of homozygotes: 0

MQ
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MQRankSum
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QD
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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FS
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DP
type: SiteQuality
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8508
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Other
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allele frequency: 0.0e0
allele num: 902
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6574
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.514233797698365e-5
allele num: 66040
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

ReadPosRankSum
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SIO_000300: -1.432e0

InbreedingCoeff
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MQ
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VQSLOD
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MQRankSum
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QD
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FS
type: SiteQuality
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BaseQRankSum
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DP
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SIO_000300: 1.6308e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e0

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

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

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.523739867129884e-5
allele num: 65628
num of homozygotes: 0

South Asian
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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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East Asian
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allele frequency: 0.0e0
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Other
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allele num: 900
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VQSLOD
type: SiteQuality
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MQRankSum
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

QD
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SIO_000300: 1.035e1

DP
type: SiteQuality
SIO_000300: 1.572547e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.26e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8376
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16388
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.523925632429137e-5
allele num: 65620
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6562
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VQSLOD
type: SiteQuality
SIO_000300: 2.22e0

FS
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.617e0

DP
type: SiteQuality
SIO_000300: 1.571937e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.07e-1

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.744689144416293e-5
allele num: 10262
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8332
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65348
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16334
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.11e1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

ClippingRankSum
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.744689144416293e-5
allele num: 10262
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European (Non-Finnish)
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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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European (Finnish)
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allele count: 0
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South Asian
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Other
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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DP
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BaseQRankSum
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QD
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FS
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MQ
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GenotypeQuality
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GenotypeQuality
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variant carriers: 63

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele num: 11420
num of homozygotes: 0

African
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allele frequency: 5.749366595205613e-3
allele num: 10262
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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Other
type: Population
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allele num: 898
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European (Non-Finnish)
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allele frequency: 1.530268715186387e-5
allele num: 65348
num of homozygotes: 0

South Asian
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num of homozygotes: 0

InbreedingCoeff
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MQ
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MQRankSum
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BaseQRankSum
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VQSLOD
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FS
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ReadPosRankSum
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ClippingRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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African
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European (Finnish)
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European (Non-Finnish)
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allele num: 64572
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South Asian
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Other
type: Population
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ClippingRankSum
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FS
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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MQ
type: SiteQuality
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BaseQRankSum
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VQSLOD
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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Latino
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East Asian
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European (Non-Finnish)
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South Asian
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allele frequency: 1.215362177929023e-4
allele num: 16456
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European (Finnish)
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DP
type: SiteQuality
SIO_000300: 1.922221e6

FS
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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QD
type: SiteQuality
SIO_000300: 1.325e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

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

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2774
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4598
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 423
bin: 2.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
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: 1
allele frequency: 1.182033096926714e-4
allele num: 8460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66078
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.339e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.28e-1

DP
type: SiteQuality
SIO_000300: 1.922221e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.71e-1

QD
type: SiteQuality
SIO_000300: 1.325e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.57e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

MQ
type: SiteQuality
SIO_000300: 6.032e1

GenotypeQuality
all individuals: 189
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 30454
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GenotypeQuality
all individuals: 3191
bin: 7.25e1
variant carriers: 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: 6580
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.026176426085641e-5
allele num: 66090
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.953e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

MQRankSum
type: SiteQuality
SIO_000300: 3.31e-1

FS
type: SiteQuality
SIO_000300: 1.1793e1

VQSLOD
type: SiteQuality
SIO_000300: -1.418e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.235e0

QD
type: SiteQuality
SIO_000300: 1.436e1

DP
type: SiteQuality
SIO_000300: 1.92636e6

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3176
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1026
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.076072426783327e-5
allele num: 16458
num of homozygotes: 0

African
type: Population
allele count: 77
allele frequency: 7.737138263665595e-3
allele num: 9952
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.183151916706105e-4
allele num: 8452
num of homozygotes: 0

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

Latino
type: Population
allele count: 4
allele frequency: 3.485535029627048e-4
allele num: 11476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66106
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

FS
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
SIO_000300: 4.75e0

MQRankSum
type: SiteQuality
SIO_000300: 1.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.0e0

DP
type: SiteQuality
SIO_000300: 1.92811e6

QD
type: SiteQuality
SIO_000300: 1.362e1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31441
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1593
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1030
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511441613010489e-5
allele num: 66162
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9974
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.819e0

VQSLOD
type: SiteQuality
SIO_000300: -7.261e-1

DP
type: SiteQuality
SIO_000300: 1.932499e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.75e0

QD
type: SiteQuality
SIO_000300: 1.684e1

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

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

GenotypeQuality
all individuals: 1028
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variant carriers: 0

GenotypeQuality
all individuals: 4540
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 132
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8478
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511213201958532e-5
allele num: 66172
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9984
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.193e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.94e-1

FS
type: SiteQuality
SIO_000300: 1.1073e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.981e1

DP
type: SiteQuality
SIO_000300: 1.934184e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.129e0

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

QD
type: SiteQuality
SIO_000300: 1.493e1

GenotypeQuality
all individuals: 3187
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
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variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2746
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 41
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variant carriers: 0

GenotypeQuality
all individuals: 4539
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10000
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66204
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.179245283018868e-4
allele num: 8480
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.443e1

FS
type: SiteQuality
SIO_000300: 3.093e0

VQSLOD
type: SiteQuality
SIO_000300: 7.9e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.53e-1

DP
type: SiteQuality
SIO_000300: 1.935079e6

MQRankSum
type: SiteQuality
SIO_000300: 3.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.79e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10046
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 6
allele frequency: 9.056330374932077e-5
allele num: 66252
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.777e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.14e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.528e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10058
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
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: 0
allele frequency: 0.0e0
allele num: 66274
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.354048964218456e-4
allele num: 8496
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 1.938116e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.465e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10066
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50879628232596e-5
allele num: 66278
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 6.26e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.938335e6

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66426
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.214034235765449e-4
allele num: 16474
num of homozygotes: 0

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.52e0

QD
type: SiteQuality
SIO_000300: 9.449999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -1.025e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.05e-1

DP
type: SiteQuality
SIO_000300: 1.943763e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10234
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66446
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.48e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.532e0

MQRankSum
type: SiteQuality
SIO_000300: -2.281e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 3.976e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.761e0

DP
type: SiteQuality
SIO_000300: 1.943991e6

QD
type: SiteQuality
SIO_000300: 1.094e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.515610791148833e-4
allele num: 6598
num of homozygotes: 0

South Asian
type: Population
allele count: 35
allele frequency: 2.124044180118947e-3
allele num: 16478
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.946916e6

QD
type: SiteQuality
SIO_000300: 1.135e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.607e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.49e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.45e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10252
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66492
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 3.468e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.43e-1

DP
type: SiteQuality
SIO_000300: 1.944983e6

QD
type: SiteQuality
SIO_000300: 1.039e1

VQSLOD
type: SiteQuality
SIO_000300: 5.639999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 1023
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10244
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50407604608489e-5
allele num: 66486
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.91e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.55e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.944813e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.984e0

QD
type: SiteQuality
SIO_000300: 1.217e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 18
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10244
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66476
num of homozygotes: 0

South Asian
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allele count: 4
allele frequency: 2.427479062993082e-4
allele num: 16478
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

QD
type: SiteQuality
SIO_000300: 1.121e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.944748e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.292e0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.068697657482704e-5
allele num: 16478
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10244
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66476
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.944748e6

MQ
type: SiteQuality
SIO_000300: 5.958e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.292e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.8e-2

QD
type: SiteQuality
SIO_000300: 1.121e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504755025881786e-5
allele num: 66456
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8548
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e0

VQSLOD
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: 5.939e1

BaseQRankSum
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SIO_000300: 1.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.98e-1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.943423e6

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.213739531496541e-4
allele num: 16478
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10218
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66448
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.23e-1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.57e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.943163e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.792401096748923e-5
allele num: 10212
num of homozygotes: 0

Other
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 count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6592
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504981488727689e-5
allele num: 66446
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.505072092953252e-5
allele num: 66442
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10216
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.974e1

QD
type: SiteQuality
SIO_000300: 1.097e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.15e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.386e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.32e-1

DP
type: SiteQuality
SIO_000300: 1.942748e6

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

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505978735580254e-5
allele num: 66402
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10210
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.883e0

VQSLOD
type: SiteQuality
SIO_000300: -2.388e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.0e-3

MQ
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SIO_000300: 5.943e1

ReadPosRankSum
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SIO_000300: -1.803e0

MQRankSum
type: SiteQuality
SIO_000300: 2.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.82e0

DP
type: SiteQuality
SIO_000300: 1.941362e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 8.99e0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10210
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506114826194349e-5
allele num: 66396
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.88e-1

MQ
type: SiteQuality
SIO_000300: 5.896e1

MQRankSum
type: SiteQuality
SIO_000300: 2.95e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 8.25e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.731e0

QD
type: SiteQuality
SIO_000300: 1.343e1

DP
type: SiteQuality
SIO_000300: 1.941356e6

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.800078400627205e-5
allele num: 10204
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506704836522525e-5
allele num: 66370
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

QD
type: SiteQuality
SIO_000300: 1.392e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

FS
type: SiteQuality
SIO_000300: 6.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.51e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

MQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 1.940551e6

GenotypeQuality
all individuals: 32020
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 22
allele frequency: 3.338391502276176e-3
allele num: 6590
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.207505518763797e-3
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10186
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.014318010550113e-5
allele num: 66350
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.22e-2

DP
type: SiteQuality
SIO_000300: 1.941205e6

MQ
type: SiteQuality
SIO_000300: 5.984e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.07e0

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

QD
type: SiteQuality
SIO_000300: 1.595e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.19e-1

GenotypeQuality
all individuals: 55
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variant carriers: 0

GenotypeQuality
all individuals: 169
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4490
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 10572
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: 16458
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.982160555004955e-4
allele num: 10090
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
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: 66180
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.279e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.522e0

MQRankSum
type: SiteQuality
SIO_000300: -7.7e-2

DP
type: SiteQuality
SIO_000300: 1.934074e6

FS
type: SiteQuality
SIO_000300: 2.613e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

VQSLOD
type: SiteQuality
SIO_000300: 9.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.077e0

GenotypeQuality
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variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
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: 6582
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9972
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.060220525869381e-4
allele num: 66024
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.5e-2

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: -6.7e-2

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.263e1

DP
type: SiteQuality
SIO_000300: 1.928903e6

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9848
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.180080245456691e-4
allele num: 8474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65764
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.686e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

QD
type: SiteQuality
SIO_000300: 1.437e1

MQ
type: SiteQuality
SIO_000300: 5.964e1

BaseQRankSum
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SIO_000300: -5.374e0

VQSLOD
type: SiteQuality
SIO_000300: 6.889999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e-1

DP
type: SiteQuality
SIO_000300: 1.922128e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.12e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
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: 9668
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.726003490401397e-5
allele num: 11460
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.917e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.79e-1

DP
type: SiteQuality
SIO_000300: 1.909676e6

QD
type: SiteQuality
SIO_000300: 1.583e1

GenotypeQuality
all individuals: 694
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1086
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variant carriers: 1

GenotypeQuality
all individuals: 8379
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6318
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16010
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.271620963816323e-4
allele num: 61630
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7844
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.81e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.54e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.116e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.276e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.48e-1

FS
type: SiteQuality
SIO_000300: 2.274e0

QD
type: SiteQuality
SIO_000300: 7.3e-1

DP
type: SiteQuality
SIO_000300: 1.692176e6

GenotypeQuality
all individuals: 139
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10756
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6591
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3780
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1697
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 709
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10944
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.774811869941786e-5
allele num: 56344
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5914
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6744
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.552221202987813e-5
allele num: 15262
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.844e1

DP
type: SiteQuality
SIO_000300: 1.480597e6

MQRankSum
type: SiteQuality
SIO_000300: 6.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.402e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.9e-3

QD
type: SiteQuality
SIO_000300: 2.151e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.25e0

GenotypeQuality
all individuals: 586
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3881
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1068
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1724
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3088
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5062
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5588
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.727768685215493e-4
allele num: 14664
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52650
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10710
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5794
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.317411e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.313e0

MQRankSum
type: SiteQuality
SIO_000300: -3.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.72e-1

QD
type: SiteQuality
SIO_000300: 9.44e0

FS
type: SiteQuality
SIO_000300: 6.777e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.18e-1