7-127254601-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127254601
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127254601
    reference: chr 7
allele count: 1
allele frequency: 2.227270702481179e-5
allele num: 44898
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.341T>A
  hgvsp: ENSP00000473846.1:p.Ile114Asn
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.341T>A
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.371T>A
  hgvsp: ENSP00000344297.3:p.Ile124Asn
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.347T>A
  hgvsp: ENSP00000368014.3:p.Ile116Asn
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.347T>A
  hgvsp: ENSP00000339906.2:p.Ile116Asn
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.341T>A
  hgvsp: ENSP00000451923.1:p.Ile114Asn
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6616
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31288
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7748
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6679
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8596
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile116Asn
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff

7-127254622-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127254622
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127254622
    reference: chr 7
allele count: 1
allele frequency: 2.416626389560174e-5
allele num: 41380
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.331-11G>C
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.361-11G>C
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.337-11G>C
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.331-11G>C
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.331-11G>C
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.337-11G>C
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29014
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10403
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10518
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2056
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30606
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1725
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

7-127254636-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127254636
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127254636
    reference: chr 7
allele count: 4
allele frequency: 1.052188552188552e-4
allele num: 38016
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.331-25C>G
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.331-25C>G
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.331-25C>G
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.337-25C>G
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.361-25C>G
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.337-25C>G
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7631
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14720
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26158
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3084
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8597
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14913
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

7-127254642-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127254642
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127254642
    reference: chr 7
allele count: 1
allele frequency: 2.713409670592066e-5
allele num: 36854
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.331-31A>G
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.337-31A>G
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.361-31A>G
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.337-31A>G
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.331-31A>G
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.331-31A>G
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16099
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7094
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3078
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4074
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8593
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum

7-127254647-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127254647
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127254647
    reference: chr 7
allele count: 1
allele frequency: 2.869605142332415e-5
allele num: 34848
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.331-36G>A
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.331-36G>A
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.331-36G>A
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.337-36G>A
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.361-36G>A
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.337-36G>A
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6286
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25084
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17535
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17934
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4188
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8593
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5388
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

7-127254648-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127254648
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127254648
    reference: chr 7
allele count: 4
allele frequency: 1.144950767117014e-4
allele num: 34936
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.337-37A>G
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.331-37A>G
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.331-37A>G
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.337-37A>G
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.361-37A>G
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.331-37A>G
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25084
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6273
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5404
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17573
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3926
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18221
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/7-127254660-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127254660
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127254660
    reference: chr 7
allele count: 1
allele frequency: 3.171582619727244e-5
allele num: 31530
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.337-49G>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.331-49G>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.361-49G>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.331-49G>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.337-49G>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.331-49G>T
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17429
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26077
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10681
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2575
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 17208
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7395
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8234
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-127254885-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127254885
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127254885
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 76820
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.336+49G>A
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.330+49G>A
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.336+49G>A
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.360+49G>A
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.330+49G>A
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.330+49G>A
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 17960
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18821
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7641
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2997
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5787
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12738
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5379
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4538
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/7-127254886-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127254886
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127254886
    reference: chr 7
allele count: 1
allele frequency: 1.299714062906161e-5
allele num: 76940
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.330+48G>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.330+48G>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.330+48G>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.336+48G>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.360+48G>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.336+48G>T
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17963
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7424
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18818
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3738
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4020
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2928
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4606
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1361
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3378
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2561
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5397
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2161
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5807
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

7-127254889-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127254889
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127254889
    reference: chr 7
allele count: 3
allele frequency: 3.860507013254407e-5
allele num: 77710
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.336+45T>C
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.360+45T>C
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.336+45T>C
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.330+45T>C
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.330+45T>C
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.330+45T>C
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18786
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18054
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6388
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5789
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2082
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2474
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2513
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15235
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2406
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/7-127254890-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127254890
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127254890
    reference: chr 7
allele count: 1
allele frequency: 1.285578381713933e-5
allele num: 77786
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.336+44T>G
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.360+44T>G
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.330+44T>G
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.336+44T>G
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.330+44T>G
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.330+44T>G
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5956
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18736
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2433
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 15802
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
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genotype quality: GenotypeQuality
  all individuals: 6641
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 3378
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1993
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

7-127254893-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127254893
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127254893
    reference: chr 7
allele count: 1
allele frequency: 1.281164322135957e-5
allele num: 78054
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.360+41G>A
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.336+41G>A
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.330+41G>A
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.330+41G>A
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.330+41G>A
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.336+41G>A
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18402
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 18273
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16729
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7969
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5368
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5471
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8003
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-127254901-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127254901
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127254901
    reference: chr 7
allele count: 1
allele frequency: 1.253352718522046e-5
allele num: 79786
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.330+33G>C
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.360+33G>C
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.330+33G>C
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.330+33G>C
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.336+33G>C
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.336+33G>C
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18561
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15748
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3959
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5048
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1451
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/7-127254905-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127254905
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127254905
    reference: chr 7
allele count: 4
allele frequency: 4.858850395996307e-5
allele num: 82324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.330+29G>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.330+29G>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.336+29G>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.360+29G>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.330+29G>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.336+29G>T
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17902
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12961
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17842
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17230
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4524
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5811
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2942
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/7-127254907-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127254907
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127254907
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 84444
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.330+27G>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.330+27G>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.360+27G>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.336+27G>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.336+27G>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.330+27G>T
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11379
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18843
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17261
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5078
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17291
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2483
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1803
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4090
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

7-127254909-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127254909
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127254909
    reference: chr 7
allele count: 1
allele frequency: 1.156497201276773e-5
allele num: 86468
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.330+25T>A
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.330+25T>A
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.360+25T>A
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.336+25T>A
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.330+25T>A
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.336+25T>A
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9926
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16541
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2071
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4434
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16631
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22204
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD

7-127254914-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127254914
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127254914
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 91630
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.330+20C>A
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.330+20C>A
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.330+20C>A
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.336+20C>A
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.360+20C>A
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.336+20C>A
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4723
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7391
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14192
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3377
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26315
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2865
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14406
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

7-127254920-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127254920
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127254920
    reference: chr 7
allele count: 5
allele frequency: 5.067499087850164e-5
allele num: 98668
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.330+14C>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.336+14C>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.330+14C>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.336+14C>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.360+14C>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.330+14C>T
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10989
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5885
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30458
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5023
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32805
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2542
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11281
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1939
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3382
  bin: 9.75e1
  variant carriers: 5
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

7-127254921-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127254921
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127254921
    reference: chr 7
allele count: 1
allele frequency: 1.001121255806503e-5
allele num: 99888
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.330+13C>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.336+13C>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.330+13C>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.330+13C>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.336+13C>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.360+13C>T
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4611
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33907
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3377
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 499
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2612
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

7-127254925-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127254925
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127254925
    reference: chr 7
allele count: 2
allele frequency: 1.915598720380055e-5
allele num: 104406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.330+9C>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.336+9C>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.330+9C>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.330+9C>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.360+9C>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.336+9C>T
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6807
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3415
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37095
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3379
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8488
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

7-127254935-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127254935
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127254935
    reference: chr 7
allele count: 1
allele frequency: 8.866977602014578e-6
allele num: 112778
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.329G>A
  hgvsp: ENSP00000451923.1:p.Ser110Asn
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.335G>A
  hgvsp: ENSP00000339906.2:p.Ser112Asn
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.329G>A
  hgvsp: ENSP00000473846.1:p.Ser110Asn
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.335G>A
  hgvsp: ENSP00000368014.3:p.Ser112Asn
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.359G>A
  hgvsp: ENSP00000344297.3:p.Ser120Asn
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.329G>A
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3182
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser112Asn
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD

7-127254938-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127254938
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127254938
    reference: chr 7
allele count: 5
allele frequency: 4.37024735600035e-5
allele num: 114410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.326C>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.326C>T
  hgvsp: ENSP00000473846.1:p.Pro109Leu
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.326C>T
  hgvsp: ENSP00000451923.1:p.Pro109Leu
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.332C>T
  hgvsp: ENSP00000339906.2:p.Pro111Leu
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.356C>T
  hgvsp: ENSP00000344297.3:p.Pro119Leu
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.332C>T
  hgvsp: ENSP00000368014.3:p.Pro111Leu
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8936
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3411
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3231
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3584
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 3.75e1
  variant carriers: 1
hgvs: p.Pro111Leu
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

7-127254939-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127254939
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127254939
    reference: chr 7
allele count: 1
allele frequency: 8.709284096847239e-6
allele num: 114820
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.331C>T
  hgvsp: ENSP00000339906.2:p.Pro111Ser
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.325C>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.325C>T
  hgvsp: ENSP00000451923.1:p.Pro109Ser
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.355C>T
  hgvsp: ENSP00000344297.3:p.Pro119Ser
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.331C>T
  hgvsp: ENSP00000368014.3:p.Pro111Ser
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.325C>T
  hgvsp: ENSP00000473846.1:p.Pro109Ser
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44950
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3381
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3388
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro111Ser
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

7-127254949-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127254949
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127254949
    reference: chr 7
allele count: 41
allele frequency: 3.467582333936636e-4
allele num: 118238
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.315G>A
  hgvsp: ENST00000463946.1:c.315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.315G>A
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.321G>A
  hgvsp: ENST00000378740.2:c.321G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.345G>A
  hgvsp: ENST00000338516.3:c.345G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.315G>A
  hgvsp: ENST00000483494.1:c.315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.321G>A
  hgvsp: ENST00000341640.2:c.321G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40853
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10039
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln107Gln
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

7-127254954-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127254954
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127254954
    reference: chr 7
allele count: 1
allele frequency: 8.397010664203544e-6
allele num: 119090
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.316A>T
  hgvsp: ENSP00000339906.2:p.Thr106Ser
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.310A>T
  hgvsp: ENSP00000473846.1:p.Thr104Ser
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.340A>T
  hgvsp: ENSP00000344297.3:p.Thr114Ser
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.310A>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.310A>T
  hgvsp: ENSP00000451923.1:p.Thr104Ser
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.316A>T
  hgvsp: ENSP00000368014.3:p.Thr106Ser
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47782
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr106Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

7-127254961-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127254961
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127254961
    reference: chr 7
allele count: 1
allele frequency: 8.324592511196577e-6
allele num: 120126
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.309G>A
  hgvsp: ENST00000378740.2:c.309G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.303G>A
  hgvsp: ENST00000483494.1:c.303G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.333G>A
  hgvsp: ENST00000338516.3:c.333G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.303G>A
  hgvsp: ENST00000463946.1:c.303G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.303G>A
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.309G>A
  hgvsp: ENST00000341640.2:c.309G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11188
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48816
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3576
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3382
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly103Gly
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/7-127254962-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127254962
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127254962
    reference: chr 7
allele count: 1
allele frequency: 8.312413758707254e-6
allele num: 120302
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.302G>T
  hgvsp: ENSP00000451923.1:p.Gly101Val
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.302G>T
  hgvsp: ENSP00000473846.1:p.Gly101Val
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.332G>T
  hgvsp: ENSP00000344297.3:p.Gly111Val
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.308G>T
  hgvsp: ENSP00000368014.3:p.Gly103Val
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.302G>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.308G>T
  hgvsp: ENSP00000339906.2:p.Gly103Val
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3383
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly103Val
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

7-127254968-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127254968
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127254968
    reference: chr 7
allele count: 2
allele frequency: 1.657769967839263e-5
allele num: 120644
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.296C>G
  hgvsp: ENSP00000473846.1:p.Ala99Gly
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.302C>G
  hgvsp: ENSP00000339906.2:p.Ala101Gly
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.302C>G
  hgvsp: ENSP00000368014.3:p.Ala101Gly
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.296C>G
  hgvsp: ENSP00000451923.1:p.Ala99Gly
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.296C>G
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.326C>G
  hgvsp: ENSP00000344297.3:p.Ala109Gly
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49253
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3606
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3382
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala101Gly
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/7-127254970-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127254970
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127254970
    reference: chr 7
allele count: 1
allele frequency: 8.279790686891435e-6
allele num: 120776
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.294T>G
  hgvsp: ENSP00000473846.1:p.Cys98Trp
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.294T>G
  hgvsp: ENSP00000451923.1:p.Cys98Trp
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.300T>G
  hgvsp: ENSP00000368014.3:p.Cys100Trp
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.294T>G
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.324T>G
  hgvsp: ENSP00000344297.3:p.Cys108Trp
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.300T>G
  hgvsp: ENSP00000339906.2:p.Cys100Trp
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40994
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49467
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3381
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Cys100Trp
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

7-127254976-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127254976
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127254976
    reference: chr 7
allele count: 2
allele frequency: 1.653493832468005e-5
allele num: 120956
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.288G>A
  hgvsp: ENST00000463946.1:c.288G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.318G>A
  hgvsp: ENST00000338516.3:c.318G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.294G>A
  hgvsp: ENST00000341640.2:c.294G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.294G>A
  hgvsp: ENST00000378740.2:c.294G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.288G>A
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.288G>A
  hgvsp: ENST00000483494.1:c.288G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11639
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln98Gln
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

7-127254979-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127254979
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127254979
    reference: chr 7
allele count: 1
allele frequency: 8.260503229856763e-6
allele num: 121058
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.285C>T
  hgvsp: ENST00000463946.1:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.315C>T
  hgvsp: ENST00000338516.3:c.315C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.285C>T
  hgvsp: ENST00000483494.1:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.291C>T
  hgvsp: ENST00000341640.2:c.291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.291C>T
  hgvsp: ENST00000378740.2:c.291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.285C>T
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11682
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3383
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg97Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum

7-127254980-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127254980
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127254980
    reference: chr 7
allele count: 5
allele frequency: 4.129774018765693e-5
allele num: 121072
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.290G>A
  hgvsp: ENSP00000339906.2:p.Arg97His
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.290G>A
  hgvsp: ENSP00000368014.3:p.Arg97His
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.314G>A
  hgvsp: ENSP00000344297.3:p.Arg105His
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.284G>A
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.284G>A
  hgvsp: ENSP00000473846.1:p.Arg95His
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.284G>A
  hgvsp: ENSP00000451923.1:p.Arg95His
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49634
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3650
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3384
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg97His
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

7-127254981-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127254981
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127254981
    reference: chr 7
allele count: 77
allele frequency: 6.356386930608067e-4
allele num: 121138
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.283C>T
  hgvsp: ENSP00000451923.1:p.Arg95Cys
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.283C>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.289C>T
  hgvsp: ENSP00000368014.3:p.Arg97Cys
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.283C>T
  hgvsp: ENSP00000473846.1:p.Arg95Cys
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.313C>T
  hgvsp: ENSP00000344297.3:p.Arg105Cys
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.289C>T
  hgvsp: ENSP00000339906.2:p.Arg97Cys
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 40931
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3667
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3444
  bin: 9.75e1
  variant carriers: 77
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49734
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg97Cys
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

7-127254984-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127254984
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127254984
    reference: chr 7
allele count: 3
allele frequency: 2.475737769855417e-5
allele num: 121176
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.280C>T
  hgvsp: ENSP00000451923.1:p.Gln94Ter
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.310C>T
  hgvsp: ENSP00000344297.3:p.Gln104Ter
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.286C>T
  hgvsp: ENSP00000339906.2:p.Gln96Ter
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.280C>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.286C>T
  hgvsp: ENSP00000368014.3:p.Gln96Ter
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.280C>T
  hgvsp: ENSP00000473846.1:p.Gln94Ter
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49795
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3684
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln96Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

7-127255004-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127255004
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127255004
    reference: chr 7
allele count: 4
allele frequency: 3.297717979158422e-5
allele num: 121296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.260C>T
  hgvsp: ENSP00000451923.1:p.Ala87Val
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.290C>T
  hgvsp: ENSP00000344297.3:p.Ala97Val
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.266C>T
  hgvsp: ENSP00000339906.2:p.Ala89Val
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.260C>T
  hgvsp: ENSP00000473846.1:p.Ala87Val
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.266C>T
  hgvsp: ENSP00000368014.3:p.Ala89Val
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.260C>T
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49920
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala89Val
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/7-127255018-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127255018
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127255018
    reference: chr 7
allele count: 2
allele frequency: 1.648559982854976e-5
allele num: 121318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.246G>T
  hgvsp: ENSP00000451923.1:p.Lys82Asn
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.276G>T
  hgvsp: ENSP00000344297.3:p.Lys92Asn
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.252G>T
  hgvsp: ENSP00000339906.2:p.Lys84Asn
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.246G>T
  hgvsp: ENSP00000473846.1:p.Lys82Asn
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.246G>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.252G>T
  hgvsp: ENSP00000368014.3:p.Lys84Asn
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11936
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3683
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys84Asn
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

7-127255028-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127255028
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127255028
    reference: chr 7
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.236C>T
  hgvsp: ENSP00000451923.1:p.Ala79Val
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.236C>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.266C>T
  hgvsp: ENSP00000344297.3:p.Ala89Val
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.242C>T
  hgvsp: ENSP00000368014.3:p.Ala81Val
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.242C>T
  hgvsp: ENSP00000339906.2:p.Ala81Val
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.236C>T
  hgvsp: ENSP00000473846.1:p.Ala79Val
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11913
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3670
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49788
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala81Val
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: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

7-127255034-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127255034
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127255034
    reference: chr 7
allele count: 17
allele frequency: 1.401322188700397e-4
allele num: 121314
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.230G>A
  hgvsp: ENSP00000451923.1:p.Arg77Gln
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.230G>A
  hgvsp: ENSP00000473846.1:p.Arg77Gln
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.230G>A
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.260G>A
  hgvsp: ENSP00000344297.3:p.Arg87Gln
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.236G>A
  hgvsp: ENSP00000339906.2:p.Arg79Gln
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.236G>A
  hgvsp: ENSP00000368014.3:p.Arg79Gln
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2603
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 11869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3665
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49617
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg79Gln
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD

7-127255042-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127255042
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127255042
    reference: chr 7
allele count: 2
allele frequency: 1.648614339647526e-5
allele num: 121314
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.252G>C
  hgvsp: ENST00000338516.3:c.252G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.228G>C
  hgvsp: ENST00000378740.2:c.228G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.222G>C
  hgvsp: ENST00000463946.1:c.222G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.222G>C
  hgvsp: ENST00000483494.1:c.222G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.228G>C
  hgvsp: ENST00000341640.2:c.228G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.222G>C
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11877
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3671
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val76Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS

http://identifiers.org/exac.variant/7-127255045-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127255045
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127255045
    reference: chr 7
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.219T>G
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.225T>G
  hgvsp: ENST00000341640.2:c.225T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.219T>G
  hgvsp: ENST00000483494.1:c.219T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.219T>G
  hgvsp: ENST00000463946.1:c.219T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.249T>G
  hgvsp: ENST00000338516.3:c.249T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.225T>G
  hgvsp: ENST00000378740.2:c.225T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro75Pro
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum

7-127255047-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127255047
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127255047
    reference: chr 7
allele count: 2
allele frequency: 1.648641519388024e-5
allele num: 121312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.217C>A
  hgvsp: ENSP00000473846.1:p.Pro73Thr
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.223C>A
  hgvsp: ENSP00000339906.2:p.Pro75Thr
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.247C>A
  hgvsp: ENSP00000344297.3:p.Pro83Thr
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.223C>A
  hgvsp: ENSP00000368014.3:p.Pro75Thr
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.217C>A
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.217C>A
  hgvsp: ENSP00000451923.1:p.Pro73Thr
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3370
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 49763
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro75Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ

7-127255047-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127255047
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127255047
    reference: chr 7
allele count: 3
allele frequency: 2.472962279082036e-5
allele num: 121312
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.223C>G
  hgvsp: ENSP00000368014.3:p.Pro75Ala
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.247C>G
  hgvsp: ENSP00000344297.3:p.Pro83Ala
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.217C>G
  hgvsp: ENSP00000451923.1:p.Pro73Ala
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.217C>G
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.223C>G
  hgvsp: ENSP00000339906.2:p.Pro75Ala
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.217C>G
  hgvsp: ENSP00000473846.1:p.Pro73Ala
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3370
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3672
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro75Ala
num of homozygotes: 1
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

7-127255054-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127255054
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127255054
    reference: chr 7
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.216T>C
  hgvsp: ENST00000341640.2:c.216T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.216T>C
  hgvsp: ENST00000378740.2:c.216T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.210T>C
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.210T>C
  hgvsp: ENST00000483494.1:c.210T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.240T>C
  hgvsp: ENST00000338516.3:c.240T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.210T>C
  hgvsp: ENST00000463946.1:c.210T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49796
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala72Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/7-127255056-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127255056
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127255056
    reference: chr 7
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.208G>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.208G>T
  hgvsp: ENSP00000473846.1:p.Ala70Ser
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.238G>T
  hgvsp: ENSP00000344297.3:p.Ala80Ser
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.208G>T
  hgvsp: ENSP00000451923.1:p.Ala70Ser
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.214G>T
  hgvsp: ENSP00000339906.2:p.Ala72Ser
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.214G>T
  hgvsp: ENSP00000368014.3:p.Ala72Ser
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala72Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

7-127255061-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127255061
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127255061
    reference: chr 7
allele count: 4
allele frequency: 3.296956908773203e-5
allele num: 121324
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.209G>A
  hgvsp: ENSP00000339906.2:p.Arg70Gln
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.203G>A
  hgvsp: ENSP00000473846.1:p.Arg68Gln
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.233G>A
  hgvsp: ENSP00000344297.3:p.Arg78Gln
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.203G>A
  hgvsp: ENSP00000451923.1:p.Arg68Gln
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.209G>A
  hgvsp: ENSP00000368014.3:p.Arg70Gln
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.203G>A
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11990
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49913
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3369
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg70Gln
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP

7-127255062-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127255062
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127255062
    reference: chr 7
allele count: 6
allele frequency: 4.945435363159804e-5
allele num: 121324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.208C>T
  hgvsp: ENSP00000368014.3:p.Arg70Trp
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.202C>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.208C>T
  hgvsp: ENSP00000339906.2:p.Arg70Trp
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.202C>T
  hgvsp: ENSP00000451923.1:p.Arg68Trp
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.202C>T
  hgvsp: ENSP00000473846.1:p.Arg68Trp
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.232C>T
  hgvsp: ENSP00000344297.3:p.Arg78Trp
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49927
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3693
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg70Trp
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD

7-127255067-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127255067
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127255067
    reference: chr 7
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.197A>C
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.203A>C
  hgvsp: ENSP00000339906.2:p.Lys68Thr
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.227A>C
  hgvsp: ENSP00000344297.3:p.Lys76Thr
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.203A>C
  hgvsp: ENSP00000368014.3:p.Lys68Thr
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.197A>C
  hgvsp: ENSP00000473846.1:p.Lys66Thr
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.197A>C
  hgvsp: ENSP00000451923.1:p.Lys66Thr
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50017
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3707
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys68Thr
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: T
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

7-127255069-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127255069
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127255069
    reference: chr 7
allele count: 5
allele frequency: 4.121535849118816e-5
allele num: 121314
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.195C>G
  hgvsp: ENSP00000451923.1:p.Ser65Arg
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.225C>G
  hgvsp: ENSP00000344297.3:p.Ser75Arg
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.195C>G
  hgvsp: ENSP00000473846.1:p.Ser65Arg
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.201C>G
  hgvsp: ENSP00000339906.2:p.Ser67Arg
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.201C>G
  hgvsp: ENSP00000368014.3:p.Ser67Arg
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.195C>G
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40806
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3691
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3368
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser67Arg
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS

7-127255070-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127255070
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127255070
    reference: chr 7
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.194G>A
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.224G>A
  hgvsp: ENSP00000344297.3:p.Ser75Asn
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.200G>A
  hgvsp: ENSP00000339906.2:p.Ser67Asn
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.194G>A
  hgvsp: ENSP00000451923.1:p.Ser65Asn
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.200G>A
  hgvsp: ENSP00000368014.3:p.Ser67Asn
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.194G>A
  hgvsp: ENSP00000473846.1:p.Ser65Asn
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50039
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3696
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser67Asn
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

7-127255076-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127255076
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127255076
    reference: chr 7
allele count: 2
allele frequency: 1.648614339647526e-5
allele num: 121314
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.194G>A
  hgvsp: ENSP00000339906.2:p.Gly65Glu
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.218G>A
  hgvsp: ENSP00000344297.3:p.Gly73Glu
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.194G>A
  hgvsp: ENSP00000368014.3:p.Gly65Glu
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.188G>A
  hgvsp: ENSP00000451923.1:p.Gly63Glu
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.188G>A
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.188G>A
  hgvsp: ENSP00000473846.1:p.Gly63Glu
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40822
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3702
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50056
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly65Glu
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

7-127255080-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127255080
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127255080
    reference: chr 7
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.190A>G
  hgvsp: ENSP00000368014.3:p.Ile64Val
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.214A>G
  hgvsp: ENSP00000344297.3:p.Ile72Val
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.190A>G
  hgvsp: ENSP00000339906.2:p.Ile64Val
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.184A>G
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.184A>G
  hgvsp: ENSP00000451923.1:p.Ile62Val
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.184A>G
  hgvsp: ENSP00000473846.1:p.Ile62Val
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40832
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3365
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50076
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile64Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

http://identifiers.org/exac.variant/7-127255082-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127255082
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127255082
    reference: chr 7
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.188G>T
  hgvsp: ENSP00000339906.2:p.Gly63Val
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.182G>T
  hgvsp: ENSP00000451923.1:p.Gly61Val
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.188G>T
  hgvsp: ENSP00000368014.3:p.Gly63Val
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.182G>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.182G>T
  hgvsp: ENSP00000473846.1:p.Gly61Val
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.212G>T
  hgvsp: ENSP00000344297.3:p.Gly71Val
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12038
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50069
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly63Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS

http://identifiers.org/exac.variant/7-127255083-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127255083
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127255083
    reference: chr 7
allele count: 40
allele frequency: 3.296848213108269e-4
allele num: 121328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.181G>T
  hgvsp: ENSP00000473846.1:p.Gly61Cys
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.211G>T
  hgvsp: ENSP00000344297.3:p.Gly71Cys
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.187G>T
  hgvsp: ENSP00000368014.3:p.Gly63Cys
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.181G>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.181G>T
  hgvsp: ENSP00000451923.1:p.Gly61Cys
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.187G>T
  hgvsp: ENSP00000339906.2:p.Gly63Cys
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly63Cys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum

7-127255083-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127255083
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127255083
    reference: chr 7
allele count: 2
allele frequency: 1.648424106554134e-5
allele num: 121328
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.187G>A
  hgvsp: ENSP00000339906.2:p.Gly63Ser
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.181G>A
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.187G>A
  hgvsp: ENSP00000368014.3:p.Gly63Ser
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.181G>A
  hgvsp: ENSP00000451923.1:p.Gly61Ser
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.181G>A
  hgvsp: ENSP00000473846.1:p.Gly61Ser
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.211G>A
  hgvsp: ENSP00000344297.3:p.Gly71Ser
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  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: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3692
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly63Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

7-127255089-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127255089
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127255089
    reference: chr 7
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.181C>A
  hgvsp: ENSP00000368014.3:p.Pro61Thr
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.181C>A
  hgvsp: ENSP00000339906.2:p.Pro61Thr
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.175C>A
  hgvsp: ENSP00000473846.1:p.Pro59Thr
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.205C>A
  hgvsp: ENSP00000344297.3:p.Pro69Thr
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.175C>A
  hgvsp: ENSP00000451923.1:p.Pro59Thr
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.175C>A
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro61Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

7-127255095-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127255095
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127255095
    reference: chr 7
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.175T>C
  hgvsp: ENST00000341640.2:c.175T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.169T>C
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.169T>C
  hgvsp: ENST00000463946.1:c.169T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.169T>C
  hgvsp: ENST00000483494.1:c.169T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.175T>C
  hgvsp: ENST00000378740.2:c.175T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.199T>C
  hgvsp: ENST00000338516.3:c.199T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40823
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12038
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50103
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu59Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP

7-127255096-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127255096
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127255096
    reference: chr 7
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.168C>G
  hgvsp: ENST00000463946.1:c.168C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.168C>G
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.168C>G
  hgvsp: ENST00000483494.1:c.168C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.198C>G
  hgvsp: ENST00000338516.3:c.198C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.174C>G
  hgvsp: ENST00000341640.2:c.174C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.174C>G
  hgvsp: ENST00000378740.2:c.174C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40822
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12038
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50100
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3692
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val58Val
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

7-127255100-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127255100
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127255100
    reference: chr 7
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.164G>A
  hgvsp: ENSP00000473846.1:p.Gly55Asp
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.164G>A
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.170G>A
  hgvsp: ENSP00000339906.2:p.Gly57Asp
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.164G>A
  hgvsp: ENSP00000451923.1:p.Gly55Asp
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.194G>A
  hgvsp: ENSP00000344297.3:p.Gly65Asp
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.170G>A
  hgvsp: ENSP00000368014.3:p.Gly57Asp
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40819
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50109
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly57Asp
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD

7-127255106-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127255106
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127255106
    reference: chr 7
allele count: 2
allele frequency: 1.649212501030758e-5
allele num: 121270
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.158G>A
  hgvsp: ENSP00000451923.1:p.Arg53His
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.158G>A
  hgvsp: ENSP00000473846.1:p.Arg53His
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.164G>A
  hgvsp: ENSP00000339906.2:p.Arg55His
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.188G>A
  hgvsp: ENSP00000344297.3:p.Arg63His
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.164G>A
  hgvsp: ENSP00000368014.3:p.Arg55His
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.158G>A
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40797
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3359
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50064
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg55His
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

7-127255107-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127255107
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127255107
    reference: chr 7
allele count: 6
allele frequency: 4.947474314362518e-5
allele num: 121274
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.163C>T
  hgvsp: ENSP00000368014.3:p.Arg55Cys
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.187C>T
  hgvsp: ENSP00000344297.3:p.Arg63Cys
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.163C>T
  hgvsp: ENSP00000339906.2:p.Arg55Cys
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.157C>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.157C>T
  hgvsp: ENSP00000451923.1:p.Arg53Cys
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.157C>T
  hgvsp: ENSP00000473846.1:p.Arg53Cys
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40802
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3673
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg55Cys
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

7-127255111-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127255111
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127255111
    reference: chr 7
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.159C>T
  hgvsp: ENST00000341640.2:c.159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.153C>T
  hgvsp: ENST00000483494.1:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.153C>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.153C>T
  hgvsp: ENST00000463946.1:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.159C>T
  hgvsp: ENST00000378740.2:c.159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.183C>T
  hgvsp: ENST00000338516.3:c.183C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50052
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3672
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Tyr53Tyr
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

7-127255115-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127255115
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127255115
    reference: chr 7
allele count: 4
allele frequency: 3.299077907724791e-5
allele num: 121246
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.149G>A
  hgvsp: ENSP00000451923.1:p.Arg50His
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.155G>A
  hgvsp: ENSP00000339906.2:p.Arg52His
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.149G>A
  hgvsp: ENSP00000473846.1:p.Arg50His
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.155G>A
  hgvsp: ENSP00000368014.3:p.Arg52His
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.179G>A
  hgvsp: ENSP00000344297.3:p.Arg60His
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.149G>A
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12005
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3361
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50021
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3679
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg52His
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

7-127255116-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127255116
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127255116
    reference: chr 7
allele count: 3
allele frequency: 2.474634991338777e-5
allele num: 121230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.148C>T
  hgvsp: ENSP00000473846.1:p.Arg50Cys
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.154C>T
  hgvsp: ENSP00000368014.3:p.Arg52Cys
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.148C>T
  hgvsp: ENSP00000451923.1:p.Arg50Cys
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.178C>T
  hgvsp: ENSP00000344297.3:p.Arg60Cys
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.154C>T
  hgvsp: ENSP00000339906.2:p.Arg52Cys
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.148C>T
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50004
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg52Cys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP

7-127255119-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127255119
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127255119
    reference: chr 7
allele count: 17
allele frequency: 1.402640264026403e-4
allele num: 121200
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.145G>C
  hgvsp: ENSP00000473846.1:p.Gly49Arg
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.151G>C
  hgvsp: ENSP00000368014.3:p.Gly51Arg
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.145G>C
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.175G>C
  hgvsp: ENSP00000344297.3:p.Gly59Arg
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.151G>C
  hgvsp: ENSP00000339906.2:p.Gly51Arg
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.145G>C
  hgvsp: ENSP00000451923.1:p.Gly49Arg
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3666
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly51Arg
num of homozygotes: 1
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

7-127255124-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127255124
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127255124
    reference: chr 7
allele count: 3
allele frequency: 2.476228209191759e-5
allele num: 121152
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.170T>A
  hgvsp: ENSP00000344297.3:p.Ile57Asn
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.140T>A
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.140T>A
  hgvsp: ENSP00000473846.1:p.Ile47Asn
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.140T>A
  hgvsp: ENSP00000451923.1:p.Ile47Asn
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.146T>A
  hgvsp: ENSP00000368014.3:p.Ile49Asn
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.146T>A
  hgvsp: ENSP00000339906.2:p.Ile49Asn
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11919
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3359
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49859
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3658
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile49Asn
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: A
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

7-127255125-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127255125
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127255125
    reference: chr 7
allele count: 1
allele frequency: 8.255456856982466e-6
allele num: 121132
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.139A>C
  hgvsp: ENSP00000473846.1:p.Ile47Leu
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.145A>C
  hgvsp: ENSP00000368014.3:p.Ile49Leu
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.169A>C
  hgvsp: ENSP00000344297.3:p.Ile57Leu
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.145A>C
  hgvsp: ENSP00000339906.2:p.Ile49Leu
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.139A>C
  hgvsp: ENSP00000451923.1:p.Ile47Leu
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.139A>C
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3660
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49822
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ile49Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/7-127255126-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127255126
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127255126
    reference: chr 7
allele count: 1
allele frequency: 8.256547442121603e-6
allele num: 121116
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.138G>T
  hgvsp: ENSP00000473846.1:p.Lys46Asn
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.168G>T
  hgvsp: ENSP00000344297.3:p.Lys56Asn
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.144G>T
  hgvsp: ENSP00000368014.3:p.Lys48Asn
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.138G>T
  hgvsp: ENSP00000451923.1:p.Lys46Asn
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.144G>T
  hgvsp: ENSP00000339906.2:p.Lys48Asn
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.138G>T
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49728
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys48Asn
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/7-127255135-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127255135
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127255135
    reference: chr 7
allele count: 45
allele frequency: 3.746503263620621e-4
allele num: 120112
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.135T>G
  hgvsp: ENSP00000368014.3:p.Cys45Trp
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.159T>G
  hgvsp: ENSP00000344297.3:p.Cys53Trp
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.129T>G
  hgvsp: ENSP00000451923.1:p.Cys43Trp
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.129T>G
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.129T>G
  hgvsp: ENSP00000473846.1:p.Cys43Trp
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.135T>G
  hgvsp: ENSP00000339906.2:p.Cys45Trp
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11627
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3344
  bin: 9.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 7.75e1
  variant carriers: 1
hgvs: p.Cys45Trp
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP

7-127255136-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127255136
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127255136
    reference: chr 7
allele count: 1
allele frequency: 8.264326209484141e-6
allele num: 121002
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.128G>C
  hgvsp: ENSP00000451923.1:p.Cys43Ser
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.134G>C
  hgvsp: ENSP00000339906.2:p.Cys45Ser
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.134G>C
  hgvsp: ENSP00000368014.3:p.Cys45Ser
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.128G>C
  hgvsp: ENSP00000473846.1:p.Cys43Ser
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.128G>C
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.158G>C
  hgvsp: ENSP00000344297.3:p.Cys53Ser
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3334
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49725
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Cys45Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

7-127255138-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127255138
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127255138
    reference: chr 7
allele count: 1
allele frequency: 8.265692417053776e-6
allele num: 120982
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.126C>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.132C>T
  hgvsp: ENST00000341640.2:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.156C>T
  hgvsp: ENST00000338516.3:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.126C>T
  hgvsp: ENST00000483494.1:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.126C>T
  hgvsp: ENST00000463946.1:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.132C>T
  hgvsp: ENST00000378740.2:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2706
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3663
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly44Gly
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD

7-127255149-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127255149
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127255149
    reference: chr 7
allele count: 2
allele frequency: 1.655437283758505e-5
allele num: 120814
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.145G>A
  hgvsp: ENSP00000344297.3:p.Val49Ile
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.121G>A
  hgvsp: ENSP00000339906.2:p.Val41Ile
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.121G>A
  hgvsp: ENSP00000368014.3:p.Val41Ile
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.115G>A
  hgvsp: ENSP00000473846.1:p.Val39Ile
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.115G>A
  hgvsp: ENSP00000451923.1:p.Val39Ile
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.115G>A
  variant of: http://identifiers.org/hgnc/8618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11818
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3333
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val41Ile
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

7-127255170-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127255170
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127255170
    reference: chr 7
allele count: 4
allele frequency: 3.327344113928263e-5
allele num: 120216
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.121-21C>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.94C>T
  hgvsp: ENSP00000473846.1:p.Pro32Ser
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.145-21C>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.94C>T
  hgvsp: ENSP00000451923.1:p.Pro32Ser
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.94C>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.121-21C>T
  variant of: http://identifiers.org/hgnc/8618
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3333
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3506
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro32Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD

7-127255171-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127255171
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 127255171
    reference: chr 7
allele count: 1
allele frequency: 8.31766839119658e-6
allele num: 120226
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000451923
  ensembl transcript: ENST00000463946
  gene symbol: PAX4
  hgvsc: ENST00000463946.1:c.93C>T
  hgvsp: ENST00000463946.1:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000473846
  ensembl transcript: ENST00000483494
  gene symbol: PAX4
  hgvsc: ENST00000483494.1:c.93C>T
  hgvsp: ENST00000483494.1:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000339906
  ensembl transcript: ENST00000341640
  gene symbol: PAX4
  hgvsc: ENST00000341640.2:c.121-22C>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106331
  ensembl transcript: ENST00000477423
  gene symbol: PAX4
  hgvsc: ENST00000477423.1:n.93C>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000368014
  ensembl transcript: ENST00000378740
  gene symbol: PAX4
  hgvsc: ENST00000378740.2:c.121-22C>T
  variant of: http://identifiers.org/hgnc/8618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106331
  ensembl protein: ENSP00000344297
  ensembl transcript: ENST00000338516
  gene symbol: PAX4
  hgvsc: ENST00000338516.3:c.145-22C>T
  variant of: http://identifiers.org/hgnc/8618
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11649
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val31Val
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 148
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3585
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1542
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1350
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2358
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.092657342657343e-4
allele num: 9152
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23524
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3122
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 356
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5036
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

VQSLOD
type: SiteQuality
SIO_000300: -6.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.44e-1

QD
type: SiteQuality
SIO_000300: 7.32e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.279998e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.37e-2

GenotypeQuality
all individuals: 91
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1875
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1479
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8595
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 104
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21472
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.748125937031484e-4
allele num: 2668
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4770
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2058
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8926
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.33e0

VQSLOD
type: SiteQuality
SIO_000300: -2.91e0

FS
type: SiteQuality
SIO_000300: 4.869e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.05e-1

QD
type: SiteQuality
SIO_000300: 2.836e1

DP
type: SiteQuality
SIO_000300: 1.231916e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.03e-2

GenotypeQuality
all individuals: 91
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24762
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1118
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 169
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19532
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1012
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2274
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 8.968609865470852e-4
allele num: 4460
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1678
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8750
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 310
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.189347e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.74e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

FS
type: SiteQuality
SIO_000300: 4.345e0

VQSLOD
type: SiteQuality
SIO_000300: 4.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

QD
type: SiteQuality
SIO_000300: 1.707e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.9e-2

GenotypeQuality
all individuals: 16391
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 957
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21963
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.306728932286139e-5
allele num: 18844
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4324
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 960
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1582
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2148
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 306
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.207e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.92e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.0e0

QD
type: SiteQuality
SIO_000300: 7.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.17349e6

FS
type: SiteQuality
SIO_000300: 3.802e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.0e0

GenotypeQuality
all individuals: 296
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 782
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1075
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
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variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
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variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1934
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.669577049552103e-5
allele num: 17638
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1366
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 294
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -7.268e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

FS
type: SiteQuality
SIO_000300: 5.666e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.627e0

MQRankSum
type: SiteQuality
SIO_000300: 4.36e-1

DP
type: SiteQuality
SIO_000300: 1.156977e6

QD
type: SiteQuality
SIO_000300: 1.742e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.24e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e-1

GenotypeQuality
all individuals: 195
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 800
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1070
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 157
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 98
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8595
bin: 9.75e1
variant carriers: 4

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1932
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 2.257336343115124e-4
allele num: 17720
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1370
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4180
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.15667e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

FS
type: SiteQuality
SIO_000300: 4.868e0

MQRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.26e-2

QD
type: SiteQuality
SIO_000300: 1.217e1

GenotypeQuality
all individuals: 153
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 5.25e1
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GenotypeQuality
all individuals: 8594
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 212
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 507
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variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 2.566735112936345e-4
allele num: 3896
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1048
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15684
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8370
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 710
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 272
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.182e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.67e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.330000000000001e-1

FS
type: SiteQuality
SIO_000300: 3.979e0

DP
type: SiteQuality
SIO_000300: 1.138444e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.33e-1

GenotypeQuality
all individuals: 1540
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3380
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8183
bin: 3.25e1
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GenotypeQuality
all individuals: 1253
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4345
bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4930
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13116
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41306
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4080
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6748
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

QD
type: SiteQuality
SIO_000300: 1.246e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

DP
type: SiteQuality
SIO_000300: 9.23313e5

VQSLOD
type: SiteQuality
SIO_000300: 6.13e-1

GenotypeQuality
all individuals: 8163
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
all individuals: 611
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GenotypeQuality
all individuals: 319
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variant carriers: 0

GenotypeQuality
all individuals: 1250
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 534
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variant carriers: 0

GenotypeQuality
all individuals: 240
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GenotypeQuality
all individuals: 2184
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6762
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4962
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 606
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6028
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13126
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.417561164297457e-5
allele num: 41364
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4092
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.038e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.243e0

MQRankSum
type: SiteQuality
SIO_000300: -6.59e-1

DP
type: SiteQuality
SIO_000300: 9.26108e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.745e1

VQSLOD
type: SiteQuality
SIO_000300: 7.91e-1

GenotypeQuality
all individuals: 780
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8178
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 2.5e0
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GenotypeQuality
all individuals: 3380
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 6092
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 676
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GenotypeQuality
all individuals: 1285
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6848
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4136
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5032
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 7.176346761075495e-5
allele num: 41804
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6106
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13172
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.65e-1

FS
type: SiteQuality
SIO_000300: 3.854e0

VQSLOD
type: SiteQuality
SIO_000300: 5.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

QD
type: SiteQuality
SIO_000300: 1.501e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.36e-1

DP
type: SiteQuality
SIO_000300: 9.37735e5

GenotypeQuality
all individuals: 5413
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
all individuals: 677
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GenotypeQuality
all individuals: 318
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GenotypeQuality
all individuals: 2022
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GenotypeQuality
all individuals: 2293
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GenotypeQuality
all individuals: 531
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.457725947521866e-4
allele num: 6860
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41830
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13174
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4144
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6108
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5058
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.18e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.62e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.53e-1

QD
type: SiteQuality
SIO_000300: 1.17e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.325e0

DP
type: SiteQuality
SIO_000300: 9.42108e5

GenotypeQuality
all individuals: 1828
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1814
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 531
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GenotypeQuality
all individuals: 610
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GenotypeQuality
all individuals: 467
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GenotypeQuality
all individuals: 3378
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1321
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.382200200104817e-5
allele num: 41978
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13198
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4160
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5078
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6884
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6136
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.749e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.211e0

DP
type: SiteQuality
SIO_000300: 9.56914e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.637e0

QD
type: SiteQuality
SIO_000300: 8.789999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

GenotypeQuality
all individuals: 1523
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
all individuals: 690
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variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 634
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13322
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6984
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4268
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5266
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.3285055651283e-5
allele num: 42946
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.011958e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

FS
type: SiteQuality
SIO_000300: 1.1891e1

MQRankSum
type: SiteQuality
SIO_000300: 5.86e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.718e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.72e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-1

QD
type: SiteQuality
SIO_000300: 6.75e0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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GenotypeQuality
all individuals: 881
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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: 4410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44356
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7184
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 6676
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5512
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.955956251847473e-4
allele num: 13532
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.52e-1

QD
type: SiteQuality
SIO_000300: 1.416e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.318e0

VQSLOD
type: SiteQuality
SIO_000300: 5.79e-1

FS
type: SiteQuality
SIO_000300: 1.709e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.81e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.38e-1

DP
type: SiteQuality
SIO_000300: 1.064449e6

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45588
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7332
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6942
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13708
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4552
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 668
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

VQSLOD
type: SiteQuality
SIO_000300: -2.213e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 5.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.09485e6

GenotypeQuality
all individuals: 699
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 684
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.141511050197019e-5
allele num: 46696
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7518
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7214
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4656
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5854
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.777e1

MQRankSum
type: SiteQuality
SIO_000300: 7.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e0

DP
type: SiteQuality
SIO_000300: 1.125299e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.399e0

FS
type: SiteQuality
SIO_000300: 3.274e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.25e-1

QD
type: SiteQuality
SIO_000300: 1.327e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 710
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7952
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14196
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49628
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7942
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.589e0

QD
type: SiteQuality
SIO_000300: 1.47e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.394e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

DP
type: SiteQuality
SIO_000300: 1.194331e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

GenotypeQuality
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bin: 8.75e1
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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 7.5e0
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14680
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53676
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6910
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5220
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 5.605381165919282e-4
allele num: 8920
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

FS
type: SiteQuality
SIO_000300: 1.644e0

QD
type: SiteQuality
SIO_000300: 1.203e1

VQSLOD
type: SiteQuality
SIO_000300: 8.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.77e-1

DP
type: SiteQuality
SIO_000300: 1.273925e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.756e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5266
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6992
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.837357145481939e-5
allele num: 54426
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9076
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.813e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQ
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MQRankSum
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VQSLOD
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

African
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allele count: 2
allele frequency: 2.239140170174653e-4
allele num: 8932
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57056
num of homozygotes: 0

East Asian
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5464
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9700
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15066
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

FS
type: SiteQuality
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BaseQRankSum
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QD
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ReadPosRankSum
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MQRankSum
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VQSLOD
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SIO_000300: 9.85e-1

DP
type: SiteQuality
SIO_000300: 1.336501e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

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
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allele frequency: 0.0e0
allele num: 8076
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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: 1.612279117760867e-5
allele num: 62024
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African
type: Population
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Latino
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allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.268e0

MQRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
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BaseQRankSum
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SIO_000300: -1.437e0

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 2.378e1

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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Other
type: Population
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allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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East Asian
type: Population
allele count: 5
allele frequency: 6.0960741282614e-4
allele num: 8202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62990
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10894
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6072
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MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.31e-1

QD
type: SiteQuality
SIO_000300: 1.23e1

FS
type: SiteQuality
SIO_000300: 2.289e0

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.831e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.86e-1

DP
type: SiteQuality
SIO_000300: 1.446842e6

GenotypeQuality
all individuals: 249
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 664
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 7.5e0
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GenotypeQuality
all individuals: 3264
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8246
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6086
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10936
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15730
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.581727879535605e-5
allele num: 63222
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.27e-1

DP
type: SiteQuality
SIO_000300: 1.450994e6

QD
type: SiteQuality
SIO_000300: 1.62e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -7.65e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.547e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e0

GenotypeQuality
all individuals: 181
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 892
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variant carriers: 0

GenotypeQuality
all individuals: 3421
bin: 9.75e1
variant carriers: 41

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11284
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65120
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6356
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10050
num of homozygotes: 0

East Asian
type: Population
allele count: 41
allele frequency: 4.824664626971052e-3
allele num: 8498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16040
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e-1

DP
type: SiteQuality
SIO_000300: 1.491571e6

QD
type: SiteQuality
SIO_000300: 1.321e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.74e-1

FS
type: SiteQuality
SIO_000300: 7.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.41e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeQuality
all individuals: 160
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 910
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524390243902439e-5
allele num: 65600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6428
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.08e0

DP
type: SiteQuality
SIO_000300: 1.502683e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 8.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e-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
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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: 141
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variant carriers: 0

GenotypeQuality
all individuals: 899
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.147792942333702e-5
allele num: 16266
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66136
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.339e0

FS
type: SiteQuality
SIO_000300: 4.093e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.36e-1

QD
type: SiteQuality
SIO_000300: 1.067e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.83e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.64e-1

DP
type: SiteQuality
SIO_000300: 1.516793e6

MQ
type: SiteQuality
SIO_000300: 5.943e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 64
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510117789187557e-5
allele num: 66220
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.812e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.727e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.616e0

QD
type: SiteQuality
SIO_000300: 1.449e1

VQSLOD
type: SiteQuality
SIO_000300: 8.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.29e-1

DP
type: SiteQuality
SIO_000300: 1.518409e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 130
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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: 404
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GenotypeQuality
all individuals: 549
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.222045704509349e-4
allele num: 16366
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66382
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.89e0

MQRankSum
type: SiteQuality
SIO_000300: 6.06e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.477e0

QD
type: SiteQuality
SIO_000300: 1.268e1

DP
type: SiteQuality
SIO_000300: 1.52373e6

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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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: 899
bin: 7.75e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16392
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.08e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.33e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.5e-3

DP
type: SiteQuality
SIO_000300: 1.52484e6

QD
type: SiteQuality
SIO_000300: 1.212e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.12e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.312673450508788e-4
allele num: 8648
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66528
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.39e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.193e1

FS
type: SiteQuality
SIO_000300: 1.3845e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.900000000000001e-3

DP
type: SiteQuality
SIO_000300: 1.52754e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.3e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.741e0

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
all individuals: 50
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GenotypeQuality
all individuals: 930
bin: 7.25e1
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: 16452
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502358703163967e-5
allele num: 66562
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.06e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.19e-1

DP
type: SiteQuality
SIO_000300: 1.528751e6

QD
type: SiteQuality
SIO_000300: 1.126e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.55e-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
all individuals: 3
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 49
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GenotypeQuality
all individuals: 87
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.215509906405737e-4
allele num: 16454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502178158329578e-5
allele num: 66570
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
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Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.71e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.8e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.264e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.11e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.52e0

DP
type: SiteQuality
SIO_000300: 1.529766e6

GenotypeQuality
all individuals: 56
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 63
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 926
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 892
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 7
allele frequency: 6.741140215716487e-4
allele num: 10384
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 49
allele frequency: 7.35802024206385e-4
allele num: 66594
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.661008141347653e-5
allele num: 11546
num of homozygotes: 0

South Asian
type: Population
allele count: 20
allele frequency: 1.214329083181542e-3
allele num: 16470
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-1

QD
type: SiteQuality
SIO_000300: 1.349e1

VQSLOD
type: SiteQuality
SIO_000300: 5.74e0

DP
type: SiteQuality
SIO_000300: 1.533305e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e0

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 675
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 930
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3378
bin: 9.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.503693028283192e-5
allele num: 66612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.64e-1

FS
type: SiteQuality
SIO_000300: 1.1774e1

DP
type: SiteQuality
SIO_000300: 1.530606e6

MQRankSum
type: SiteQuality
SIO_000300: 5.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.882e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.274e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.23e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.548e0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3381
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 884
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3683
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000210014701029e-5
allele num: 66662
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.729206294310911e-4
allele num: 11566
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.53191e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.291e0

MQRankSum
type: SiteQuality
SIO_000300: 7.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.65e-1

FS
type: SiteQuality
SIO_000300: 1.361e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.452e1

GenotypeQuality
all individuals: 49922
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 666
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3371
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 929
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999670036296008e-5
allele num: 66674
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.353e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.0396e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

DP
type: SiteQuality
SIO_000300: 1.53139e6

MQ
type: SiteQuality
SIO_000300: 5.906e1

VQSLOD
type: SiteQuality
SIO_000300: -6.335e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.97e-1

QD
type: SiteQuality
SIO_000300: 1.591e1

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

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3369
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 865
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.917e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.28e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.43e-1

FS
type: SiteQuality
SIO_000300: 9.95e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.23e0

VQSLOD
type: SiteQuality
SIO_000300: -3.243e-1

DP
type: SiteQuality
SIO_000300: 1.530919e6

QD
type: SiteQuality
SIO_000300: 9.210000000000001e0

GenotypeQuality
all individuals: 133
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3383
bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.3998800059997e-4
allele num: 66670
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.63e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.095e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

DP
type: SiteQuality
SIO_000300: 1.531639e6

QD
type: SiteQuality
SIO_000300: 1.339e1

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 862
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 922
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3371
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 49739
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000030000300003e-5
allele num: 66666
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e0

MQRankSum
type: SiteQuality
SIO_000300: 5.98e-1

DP
type: SiteQuality
SIO_000300: 1.530648e6

VQSLOD
type: SiteQuality
SIO_000300: -4.651e-1

QD
type: SiteQuality
SIO_000300: 1.125e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.012e0

FS
type: SiteQuality
SIO_000300: 9.603999999999999e0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 863
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 80
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49704
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3666
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3369
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 65
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5001500150015e-5
allele num: 66660
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.79e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.68e-1

FS
type: SiteQuality
SIO_000300: 1.729e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.56e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

DP
type: SiteQuality
SIO_000300: 1.530693e6

QD
type: SiteQuality
SIO_000300: 1.221e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e0

GenotypeQuality
all individuals: 65
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3672
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
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: 11574
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.274e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.129999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.759e0

MQRankSum
type: SiteQuality
SIO_000300: -7.9e-2

DP
type: SiteQuality
SIO_000300: 1.531315e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.64e-1

QD
type: SiteQuality
SIO_000300: 1.81e1

FS
type: SiteQuality
SIO_000300: 1.0715e1

MQ
type: SiteQuality
SIO_000300: 5.961e1

GenotypeQuality
all individuals: 75
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 49763
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 922
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
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: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.0715e1

MQ
type: SiteQuality
SIO_000300: 5.961e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.759e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.274e-1

DP
type: SiteQuality
SIO_000300: 1.531315e6

VQSLOD
type: SiteQuality
SIO_000300: 8.129999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.64e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.9e-2

QD
type: SiteQuality
SIO_000300: 1.81e1

GenotypeQuality
all individuals: 71
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 669
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 118
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.992e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.181e1

MQ
type: SiteQuality
SIO_000300: 5.974e1

VQSLOD
type: SiteQuality
SIO_000300: -3.13e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.578e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.9e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.531504e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-2

GenotypeQuality
all individuals: 924
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 548
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49828
bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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: 16512
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.198e1

DP
type: SiteQuality
SIO_000300: 1.531713e6

MQRankSum
type: SiteQuality
SIO_000300: -8.89e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.794e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

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

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

GenotypeQuality
all individuals: 113
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3685
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 669
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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: 1.499880009599232e-5
allele num: 66672
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.03e-1

FS
type: SiteQuality
SIO_000300: 1.113e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.6e-2

QD
type: SiteQuality
SIO_000300: 1.097e1

DP
type: SiteQuality
SIO_000300: 1.532188e6

GenotypeQuality
all individuals: 341
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3367
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 928
bin: 7.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 5
allele frequency: 3.028100775193798e-4
allele num: 16512
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.34e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.975e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.810000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.532664e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.32e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

FS
type: SiteQuality
SIO_000300: 5.269e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.686e0

QD
type: SiteQuality
SIO_000300: 1.533e1

GenotypeQuality
all individuals: 341
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 929
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 549
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variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 872
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3364
bin: 9.75e1
variant carriers: 1

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: 10396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.987e1

FS
type: SiteQuality
SIO_000300: 4.153e0

VQSLOD
type: SiteQuality
SIO_000300: 4.52e-1

QD
type: SiteQuality
SIO_000300: 1.094e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.831e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.532376e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

GenotypeQuality
all individuals: 548
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50017
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 868
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variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 341
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 930
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.028100775193798e-4
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.3e-2

MQ
type: SiteQuality
SIO_000300: 5.962e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.379999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.532967e6

QD
type: SiteQuality
SIO_000300: 1.551e1

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.9e-2

FS
type: SiteQuality
SIO_000300: 1.725e0

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

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

GenotypeQuality
all individuals: 37
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3364
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 930
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.249e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.106e1

DP
type: SiteQuality
SIO_000300: 1.532479e6

VQSLOD
type: SiteQuality
SIO_000300: 4.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.84e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 14
bin: 3.75e1
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GenotypeQuality
all individuals: 548
bin: 9.25e1
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GenotypeQuality
all individuals: 342
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GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3366
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
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: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500060002400096e-5
allele num: 66664
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.404e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -7.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.99e0

DP
type: SiteQuality
SIO_000300: 1.532742e6

QD
type: SiteQuality
SIO_000300: 6.42e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.311e0

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 922
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3706
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 668
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 872
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
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: 11574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.596e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.54e-1

DP
type: SiteQuality
SIO_000300: 1.532649e6

QD
type: SiteQuality
SIO_000300: 1.355e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.69e-1

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

GenotypeQuality
all individuals: 922
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3701
bin: 6.75e1
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GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3365
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 547
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499745043342632e-5
allele num: 66678
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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: 10398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.915e0

MQRankSum
type: SiteQuality
SIO_000300: 2.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

VQSLOD
type: SiteQuality
SIO_000300: -1.059e0

QD
type: SiteQuality
SIO_000300: 1.113e1

DP
type: SiteQuality
SIO_000300: 1.532748e6

FS
type: SiteQuality
SIO_000300: 8.199999999999999e0

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

GenotypeQuality
all individuals: 85
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50062
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3401
bin: 9.75e1
variant carriers: 40

GenotypeQuality
all individuals: 339
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3692
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 869
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 37
allele frequency: 3.558376610886709e-3
allele num: 10398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
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: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.592016588906169e-4
allele num: 11574
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.62e-1

DP
type: SiteQuality
SIO_000300: 1.536361e6

MQ
type: SiteQuality
SIO_000300: 5.979e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.89e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.985e0

QD
type: SiteQuality
SIO_000300: 1.2e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.3e-1

GenotypeQuality
all individuals: 921
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 667
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50062
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3401
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 2
allele frequency: 1.923446816695518e-4
allele num: 10398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
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: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.985e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.89e0

DP
type: SiteQuality
SIO_000300: 1.536361e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.31e-1

QD
type: SiteQuality
SIO_000300: 1.2e1

MQ
type: SiteQuality
SIO_000300: 5.979e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.62e-1

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

GenotypeQuality
all individuals: 50087
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 866
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3358
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3695
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.992e1

QD
type: SiteQuality
SIO_000300: 1.531e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.018000000000001e0

DP
type: SiteQuality
SIO_000300: 1.53245e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e0

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-1

FS
type: SiteQuality
SIO_000300: 9.390000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -8.421e-1

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

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3696
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3358
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 546
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 860
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
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: 10394
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.55e-1

QD
type: SiteQuality
SIO_000300: 1.367e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.066e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 3.876e0

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

DP
type: SiteQuality
SIO_000300: 1.532105e6

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 859
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3358
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 100
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 916
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500285054160291e-5
allele num: 66654
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e0

FS
type: SiteQuality
SIO_000300: 3.926e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

QD
type: SiteQuality
SIO_000300: 1.432e1

DP
type: SiteQuality
SIO_000300: 1.532152e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

VQSLOD
type: SiteQuality
SIO_000300: 7.33e-1

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

GenotypeQuality
all individuals: 112
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3358
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 546
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 913
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3686
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
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: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66646
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.669e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.469e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.19e-1

DP
type: SiteQuality
SIO_000300: 1.531905e6

MQRankSum
type: SiteQuality
SIO_000300: -4.83e-1

FS
type: SiteQuality
SIO_000300: 5.328e0

MQ
type: SiteQuality
SIO_000300: 5.745e1

QD
type: SiteQuality
SIO_000300: 1.443e1

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

GenotypeQuality
all individuals: 910
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 667
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3674
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 862
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500780405811022e-5
allele num: 66632
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e0

FS
type: SiteQuality
SIO_000300: 5.306e0

QD
type: SiteQuality
SIO_000300: 1.237e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.78e-1

DP
type: SiteQuality
SIO_000300: 1.531851e6

MQRankSum
type: SiteQuality
SIO_000300: 4.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.92e-1

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3363
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 29
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 861
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50082
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728011059270779e-4
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001380635092142e-5
allele num: 66636
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.314279102059708e-4
allele num: 8642
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.29e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

FS
type: SiteQuality
SIO_000300: 5.580000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.435e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.107e0

MQRankSum
type: SiteQuality
SIO_000300: 3.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.532413e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.267e0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 860
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3358
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 907
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
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: 10380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50105073551486e-5
allele num: 66620
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.08e-1

FS
type: SiteQuality
SIO_000300: 1.491e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.088e0

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

DP
type: SiteQuality
SIO_000300: 1.531265e6

MQ
type: SiteQuality
SIO_000300: 5.955e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.623e0

QD
type: SiteQuality
SIO_000300: 1.151e1

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

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

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

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 9.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501140867058965e-5
allele num: 66616
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: 1
allele frequency: 9.633911368015414e-5
allele num: 10380
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

MQRankSum
type: SiteQuality
SIO_000300: -2.74e-1

QD
type: SiteQuality
SIO_000300: 1.649e1

MQ
type: SiteQuality
SIO_000300: 5.993e1

DP
type: SiteQuality
SIO_000300: 1.531565e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 1.876e0

VQSLOD
type: SiteQuality
SIO_000300: 9.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.56e-1

GenotypeQuality
all individuals: 163
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3359
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 857
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3673
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35
bin: 2.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
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: 1.501411326647048e-5
allele num: 66604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.805e0

MQRankSum
type: SiteQuality
SIO_000300: 1.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.975e1

QD
type: SiteQuality
SIO_000300: 1.314e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.99e-1

DP
type: SiteQuality
SIO_000300: 1.531195e6

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 16

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

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

GenotypeQuality
all individuals: 41
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 17
allele frequency: 1.967137236750752e-3
allele num: 8642
num of homozygotes: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66584
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
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: 6614
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.24e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 1.531831e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e-1

QD
type: SiteQuality
SIO_000300: 1.426e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.308e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.02e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.71e0

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 340
bin: 8.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 3
allele frequency: 2.592464569650881e-4
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 4.829e0

DP
type: SiteQuality
SIO_000300: 1.529422e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 8.149999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.07e0

MQRankSum
type: SiteQuality
SIO_000300: 9.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.87e-1

QD
type: SiteQuality
SIO_000300: 1.081e1

GenotypeQuality
all individuals: 65
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 667
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variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3357
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.659969088098918e-5
allele num: 10352
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66534
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.76e0

VQSLOD
type: SiteQuality
SIO_000300: -1.535e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 3.485e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.341e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

QD
type: SiteQuality
SIO_000300: 1.513e1

MQRankSum
type: SiteQuality
SIO_000300: 1.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.34e0

DP
type: SiteQuality
SIO_000300: 1.528911e6

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

GenotypeQuality
all individuals: 72
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3651
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 339
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3357
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 75
bin: 3.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.663703131039814e-5
allele num: 10348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66522
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: 16510
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.964e1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

FS
type: SiteQuality
SIO_000300: 2.657e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.191e0

DP
type: SiteQuality
SIO_000300: 1.528333e6

QD
type: SiteQuality
SIO_000300: 1.306e1

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.426e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

GenotypeQuality
all individuals: 48985
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 3530
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 97
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 328
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 65
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 530
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 862
bin: 7.25e1
variant carriers: 4

GenotypeQuality
all individuals: 626
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 105
bin: 5.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 37
allele frequency: 5.616442514951881e-4
allele num: 65878
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: 1
allele frequency: 1.525785779676533e-4
allele num: 6554
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 5.957108816521049e-4
allele num: 10072
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.886e0

VQSLOD
type: SiteQuality
SIO_000300: -6.289e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.16e-1

MQ
type: SiteQuality
SIO_000300: 5.883e1

QD
type: SiteQuality
SIO_000300: 9.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.83e-1

FS
type: SiteQuality
SIO_000300: 1.15869e2

DP
type: SiteQuality
SIO_000300: 1.545141e6

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

GenotypeQuality
all individuals: 628
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 534
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variant carriers: 0

GenotypeQuality
all individuals: 886
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variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 8.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505026789476853e-5
allele num: 66444
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.328e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.255e0

MQ
type: SiteQuality
SIO_000300: 5.937e1

DP
type: SiteQuality
SIO_000300: 1.527412e6

VQSLOD
type: SiteQuality
SIO_000300: 8.75e-1

GenotypeQuality
all individuals: 49718
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 327
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variant carriers: 0

GenotypeQuality
all individuals: 883
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 626
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variant carriers: 0

GenotypeQuality
all individuals: 74
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variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3333
bin: 9.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505298651252408e-5
allele num: 66432
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.49e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.402e0

FS
type: SiteQuality
SIO_000300: 3.324e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.48e-1

DP
type: SiteQuality
SIO_000300: 1.52684e6

QD
type: SiteQuality
SIO_000300: 1.241e1

GenotypeQuality
all individuals: 92
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3616
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
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variant carriers: 0

GenotypeQuality
all individuals: 49430
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 823
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variant carriers: 0

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

GenotypeQuality
all individuals: 533
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 8.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.016227302889546e-5
allele num: 66308
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.122e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 1.552e0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.761e0

VQSLOD
type: SiteQuality
SIO_000300: 8.74e-1

DP
type: SiteQuality
SIO_000300: 1.522405e6

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

GenotypeQuality
all individuals: 48844
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variant carriers: 0

GenotypeQuality
all individuals: 325
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variant carriers: 0

GenotypeQuality
all individuals: 1094
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 70
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 3.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.550142571133895e-5
allele num: 65932
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.668515950069348e-5
allele num: 11536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10172
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.26e-1

DP
type: SiteQuality
SIO_000300: 1.513712e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.066e0

MQRankSum
type: SiteQuality
SIO_000300: 3.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.33e0

FS
type: SiteQuality
SIO_000300: 1.134e0

QD
type: SiteQuality
SIO_000300: 1.111e1